Facioscapulohumeral Muscular Dystrophy Society

FSH Watch

Vol. 1 No. 2, Fall 1994
A publication of the FacioScapuloHumeral Society
Provided by the FSH Society, Inc.

Inside ...


Organizations Vie for a Sliver of the Budget Pie


In July, 1994, the Associated Press wrote the following article detailing some of the political maneuvering employed by organizations trying to obtain funding for medical research. We are running this article to help our membership better understand the enormous uphill battle we are fighting. Our thanks go to the Associated Press and writer Alan Fram for their assistance. Used with permission.

Washington (AP)--Daniel Perez, chief activist for the thousands of Americans afflicted with the adult form of muscular dystrophy, wants Congress to target $500,000 for research next year on the degenerative disease. So last winter, the 32-year-old software designer from Lexington, Mass.--himself stricken with the disease--got to work. He testified before two congressional subcommittees for nine minutes, and urged the 550 members of his FSH Society, named for facioscapulohumeral disease, to contact their senators and representatives.
"I like to think we're doing the best we can with our resources," Perez says of his group's $25,000 budget.
When the National Education Association (NEA) wanted to protect federal education programs, it had a bit more brawn. For the nation's largest union and one of the biggest congressional campaign contributors, this included its $170 million budget and a 50-person government relations staff. It also used its new interactive computer network to prod its 2.2 million members to visit and write lawmakers.
The teachers' union and Perez focused their efforts on the same bill: legislation providing $252 billion in 1995 for the departments of Labor, Health and Human Services, and Education, plus some smaller agencies. They and hundreds of other schools, unions, patients' groups and others have spent 1994 in all-out competition, each lobbying for a piece of Congress' biggest spending measure.
So far, neither Perez nor the NEA is overjoyed. The Senate Appropriations Committee and the full House have completed separate versions of the legislation, each slashing several education programs and making no mention of FSHD. But they typify the groups, big and small, who have sought the ears of the 27 members of the House and Senate Appropriations Committees' subcommittees that wrote the measure.
Mirroring the bills' contents, the lobbies are a Who's Who of popular causes: the National Breast Cancer Coalition, and Reading is Fundamental among them. That puts a premium on standing out from the crowd, and in knowing the right people. To accomplish this, many schools and groups work with experienced Washington lobbyists.
The Coriell Institute for Medical Research of Camden, N.J., is a client of Cassidy and Associates, a lobbying firm whose staff includes numerous former congressional staff workers. With its bill, the Senate Appropriations Committee urges the National Institutes of Health to give "full consideration" to Coriell's request for money to help it establish a cell repository.
Another weapon is the folks back home, whose pleas quickly draw lawmakers' attention. "If local people tell you something that really makes sense to you, that's the key to it," says Rep. Neal Smith, D-Iowa, who chairs the House subcommittee.
When President Clinton proposed freezing some aid to the nation's research universities in February, scores of schools snapped into action. In a campaign coordinated by the Association of American Universities, they begged their senators and representatives to head off the plan. Included was the University of Iowa, whose officials met with Smith and Sen. Tom Harkin, another Iowa Democrat who chairs the Senate subcommittee. "Both were receptive to the problems we raised," said Derek Willard, the university's associate vice president for research. In the end, both Smith's and Harkin's bills ignored Clinton's proposal to freeze the assistance, though both left room for future changes in the money's distribution.
Another attention-getting technique is campaign contributions, which organizations hope will help re-elect sympathetic lawmakers and gain them access. The NEA contributed $391,000 to House and Senate candidates last year, including $500 to $1,000 to each of the eight Democrats on Smith's appropriations subcommittee, according to the nonpartisan Center for Responsive Politics. Other frequent contributors to subcommittee members include unions and groups representing doctors and health professionals.
For others, the subcommittees' public hearings, held before the bills are written, are a chance to be heard. Each panel heard brief testimony from 150 groups this year, ranging from the AIDS Action Council to the Women Take Heart Project. Scores of others wanted to appear; to pick its 150, the House panel held a lottery by computer.
To stand out, some groups flash celebrities. The actress Mary Tyler Moore, who has diabetes, testifies frequently for the Juvenile Diabetes Foundation; Chris Burke, an actor with Down Syndrome, spoke for the National Down Syndrome Society. "That gets the cameras there, and it gets the members there," said Smith, a 28-year veteran of the process.
Some disease groups send patients to testify, most touchingly children or the parents of afflicted youngsters. "The doctors told my parents I would never live for over a week, but I did," 8th-grader Brianne Schwantes, who has a bone disease, told Smith's panel in February. Many lawmakers find that sort of testimony most memorable, no matter how often they've heard it.
--Alan Fram, Associated Press Writer

v v v

From the President


The first edition of the FSH Watch was well received and we are pleased to present this second edition. It is our hope to be able to continue to provide quality information that is both useful and timely.
I am writing to you today on matters of concern to thousands of families affected with facioscapulohumeral disease. When I founded the FSH Society three years ago, I was seriously concerned about the lack of organization in the FSHD community as a whole, and the need to work with the FSHD research community. I stand firmly on that belief today.
The FSH Society was created out of a sincere concern for the community of individuals living with FSHD. The information presented in this newsletter is collected with a deep commitment and a sense of responsibility to individuals involved with FSHD. I know that each of you receiving this information will reciprocate with a sense of commitment and responsibility to the FSH Society. Please realize that all the programs being developed, and efforts represented, are made by people who manage, as you do, within the continuing role of FSHD in the theaters of the mind and body.
With the arrival of autumn, as the days get shorter and the shadows lengthen, I become keenly aware of the approach of the end of the year. Today, I ask if we should be pleased with the progress that the FSH Society has made since the first of the year? The answer is a resounding yes.
Earlier this year, I testified on behalf of the FSH Society in front of both Houses of Congress. We also submitted several well researched written testimonies outlining a plan of action for the federal government on FSHD research. In 1994, the Society met with the National Institutes of Health (NIH) four times. The United States Public Health Service has expressed a healthy interest and a sincere concern about FSHD. In fact, even though Congress did not make any mention of FSHD in the congressional budget this year, the National Institute of Arthritis and Musculoskelatal Diseases (NIAMS) granted a directly titled NIH grant for molecular genetics research on FSHD.
In addition, NIH has expressed an interest in supporting, in part, a joint FSH Society/NIH scientific symposium on FSHD research in early 1996. The cost of a scientific symposium is between $40,000 and $60,000. We are setting up a special "Research & Education Fund" to earmark funds towards this conference. Please consider making a donation or asking others to make a donation to this fund. We need to raise these funds to support the symposium in 1996.
The Society has conducted all of its organizational business, met the 1994 budget, published two newsletters, done several national mailings, formed new support groups, increased its membership substantially, provided two offices for people to call for information, and continues to create new and innovative programs for FSHD.
As 1994 draws to a close, we need you. We need people with expertise in fund raising and grant writing. We need politicians with direct experience with FSHD to provide us with a patient/congress intersection. We need substantial corporate support. We need people to get involved by responding to the information and questions presented in this newsletter. Lastly, we need you to consider making a 1994 tax deductible donation and to become a member in 1995.
It can be said that in 1994 the FSH Society changed the FSHD landscape significantly by providing information, networking and advocacy. We look to 1995 as the year in which one or more FSHD genes will be identified. We hope that 1995 will be the year in which the FSH Society will be there to help you manage your way to health.
--Daniel Paul Perez, President
FacioScapuloHumeral Society

Acknowledgements


In Honor of Jessica Ryley
  • Carolyn Jo Chesney - Florida
  • Martin and Mary E. Doto - New York
  • Jo Ann Frye - Georgia
  • Rick Frye - Washington
  • Thomas M. Frye - Tennessee
  • Thelma Green - Michigan
  • Pamela L. Pappas - Maryland
  • James Ryley, Jr. - Pennsylvania
  • Mr. and Mrs. Mary Ryley - Ohio
  • David D. Smith - Ohio
  • Mrs. Joanne Smith - Michigan
  • Timothy J. Smith - Texas


    In Memory of
    Jerome V. Lusson
  • Ralph and Helen Amos - Illinois
  • Dorothea Blohm - Illinois
  • J. L. Brady Co. - Illinois
  • Dale A. and Margaret Scudder Brchan - Minnesota
  • Robert and Maryanna Claxton - Minnesota
  • Francis and Margaret Coene - Illinois
  • Fred and Helen DeCoster - Illinois
  • Mr. and Mrs. Donald S. Fenton - Illinois
  • John Deere Company - North Carolina
  • Arlo and Marie Hasselbusch - Illinois
  • Denise Hawley - Iowa
  • Mr. and Mrs. Delbert Hoyle - Illinois
  • Mrs. Evelyn I. Lusson - Arizona
  • Charles R. McNally - Oregon
  • Carol J. Perry - Nebraska
  • Myrtle M. Pratt - Arizona
  • Rock River Plumbing - Mechanical Contractors Assn., Inc. - Illinois
  • Lawrence A. Ross - Indiana
  • Friends from "The Boulders" - Arizona
  • Mr. & Mrs. Bernard Tremblay
  • Mr. and Mrs. Lawrence Van de Kerckhove - Illinois
  • Homer and Elsie VanMeter - Illinois

    Members
  • Claudine H. Brown - New Mexico
  • Brian Luoma - Minnesota
  • Robert A. Olds - Maryland
  • Dabney Richey - Texas
  • Gloria Richmond - Massachusetts
  • David O. Smith - Ohio

    Contributors
  • John L. DeFranzo & Son Contracting & Trucking - Massachusetts
  • I.R.I - Massachusetts - Employees 1994 Lottery/Auction Charity
  • Mildren Lauretano - Massachusetts In honor of her sister Gloria Richmond and her niece, Ann Starkey
  • Donald C. Lokerson - Maryland In honor of Karen Johnsen's work with the Mid Atlantic FSHD Support Group
  • Reba Battery Company - Colorado
  • Diana Sitkowski - Massachusetts In honor of her friends, Gloria Richmond and Ann Starkey

    Condolences
    The FSH Society extends it condolences to the family of Jerome V. Lusson. Mr. Lusson, a dedicated member of the FSH Society, died on July 31, 1994. The FSH Society expresses appreciation to the Lusson family and his wife, Evelyn I. Lusson, for establishing the Jerome V. Lusson memorial fund, and to the friends and family who have honored his memory.
    The FSH Watch is published by the FSH Society and distributed, by mail, to its members and supporters. To be placed on the mailing list or to submit an article please write to: Daniel Perez, FSH Society, 3 Westwood Road, Lexington, MA 02420. Articles may be edited for space and clarity. Every effort has been made to ensure accuracy in the newsletter. If you wish to correct an error, please write to the above address.



    High Protein and Exercise Therapy (HPET) in
    FacioScapuloHumeral (FSHD) Muscular Dystrophy

    Subjects Needed for New Study


    A collaborative study into the effect of nutrition and exercise in FacioScapuloHumeral (FSHD) Muscular Dystrophy is under way between the muscle centers at North Shore University Hospital in New York, and Massachusetts General Hospital and Brigham & Women's Hospital in Boston, Massachusetts under the direction of Alfred E. Slonim, M.D.; Barbara E. Shapiro, M.D., Ph.D.; and David C. Preston, M.D. respectively. For the past 12 years, Dr. Slonim has been involved in the investigation and treatment of various muscular dystrophies, and particularly the metabolic myopathies. Dr. Slonim has been primarily involved in the clinical research study of these disorders, devising therapeutic techniques and examining the effect of short term and long term administration of different nutritional substrates with and without submaximal exercise.
    All interested patients will be initially screened with a series of questions by telephone, either at the Massachusetts General Hospital or the Brigham and Women's Hospital. After the telephone interview, you will be evaluated in the MDA clinic by Dr. Shapiro or Dr. Preston. It is important to bring copies of your medical records to the initial visit. A clinical examination will be performed and laboratory blood and urine tests obtained. If you have not been thoroughly investigated in the past, further studies including nerve conduction studies, EMG and muscle biopsy may be performed.
    After the initial evaluation, you will be scheduled for a muscle strength test. In addition, you will be scheduled to meet with the physical therapist who will instruct you in aerobic submaximal exercise, and an individually designed exercise program will be established. Testing will include videotaping and timing of several functional activities, such as walking, and arising from a chair. Two pulmonary function tests will be performed.
    You will also meet with the nutritionist who will perform an initial dietary evaluation and instruct you on the diet. If possible, you will be seen every two weeks for the first two months, monthly for the next four months, and then every two months for the next six months. Three-day food records will be obtained to assess dietary compliance with energy and protein recommendations and to determine adequacy of nutrient intake. Weight and height will be monitored. The nutritionist will confer with the M.D. to modify meal plans as warranted. The high protein diet consists of three meals and three snacks a day so that high circulating amino acids should be available to the working muscles throughout the day. Supplementing the diet with protein is achieved by increasing dietary protein during the meals, and drinking a high protein milk shake consisting of ProMod and skim milk as a snack between meals.
    If you are interested in participating in the study, or have further questions, please contact Dr. Shapiro at (617) 724-3914 or Dr. Preston at (617) 732-5406.

    MDA Research Portfolio


    The following is a listing of the 1993 Muscular Dystrophy Association research portfolio for FSHD. This information was obtained by the FSH Society in August, 1994, and may have changed.
    Irvine, CA -- University of California
    Investigator:
    Michael R. Altherr, Ph.D.
    Title:
    Cloning the Gene Responsible for FacioScapuloHumeral Muscular Dystrophy.
    Summary:
    A project aimed at identifying the gene that, when defective, is responsible for FacioScapuloHumeral Muscular Dystrophy.
    Duration:
    Three years, 10/01/93 - 09/30/96.
    Class:
    Genetic Research Grant.

    Iowa City, IA -- University of Iowa
    Investigator:
    Katherine D. Mathews, M.D.
    Title:
    FacioScapuloHumeral Muscular Dystrophy Mapping and Gene Isolation.
    Summary:
    The goal of this project is to locate and identify the defective gene that causes FacioScapuloHumeral Muscular Dystrophy.
    Duration:
    Three years. 07/01/92 - 06/30/95.
    Class:
    Genetic Research Grant.

    Waltham, MA -- Genome Therapeutics, Corp.
    Investigator:
    Barbara Weiffenbach, Ph.D.
    Title:
    Cloning the Gene for FacioScapuloHumeral Muscular Dystrophy (FSHD).
    Summary:
    Study to find the gene that, when defective, causes FacioScapuloHumeral Muscular Dystrophy.
    Duration:
    Three years 02/01/92 - 01/31/95.
    Class:
    Genetic Research Grant

    Rochester, NY -- University of Rochester
    Investigator:
    Michael P. McDermott, Ph.D.
    Title:
    Natural History of FacioScapuloHumeral Muscular Dystrophy.
    Summary:
    Definition of the progression of the disease FacioScapuloHumeral Muscular Dystrophy in preparation for clinical trials.
    Duration:
    Three years. 01/01/93 - 12/31/95.
    Class:
    Research Grant.

    Durham, NC -- Duke University
    Investigator:
    John R. Gilbert, Ph.D.
    Title:
    Mapping the FacioScapuloHumeral Muscular Dystrophy Gene.
    Summary:
    Studies to find the gene that, when defective, results in FacioScapuloHumeral Muscular Dystrophy, known to be located within a small region of chromosome 4.
    Duration:
    Three years. 09/01/91 - 08/31/94.
    Class:
    Genetic Research Grant.

    Leiden, Netherlands -- University of Leiden
    Investigator:
    Rune R. Frants, Ph.D.
    Title:
    Cloning and Characterization of the FacioScapuloHumeral Muscular Dystrophy Gene.
    Summary:
    A project focused on isolating and characterizing the FacioScapuloHumeral Muscular Dystrophy gene on chromosome 4.
    Duration:
    Two years. 01/01/93 - 12/31/94
    Class:
    Genetic Research Grant.

    Manchester, England -- Manchester University
    Investigator:
    Jane E. Hewitt, Ph.D.
    Title:
    Mapping of Distal Chromosome 4q35, the FacioScapuloHumeral Muscular Dystrophy Gene Region.
    Summary:
    A map of the region of chromosome 4 that contains the defective gene causing FacioScapuloHumeral Muscular Dystrophy will be developed to enable the identification of the gene.
    Duration:
    Three years. 10/01/93 - 09/30/96.
    Class:
    Genetic Research Grant.

    Thank You!



    The FSH Society wishes to acknowledge the following for their contributions to our efforts:

  • Bev and Jim Weyenberg, Kaukauna, WI for mailing the FSH Watch and letters to the network members.

  • Thilmany Division, International Paper, for contributing supplies for our membership mailing.

    Researchers


    Tokyo, Japan
    Although we still do not know the nature of the FSHD gene and the protein associated with it, the DNA rearrangements associated with FSHD have been found to cause a decrease in the size of the EcoRI fragment detected with the p13E-11 and pFR-1 probes, and deletions of the 3.3 kb repeat units within the fragment are thought to cause the disease. However, we still face diagnostic uncertainties due to locus hetero geneity, recombination event, and the fact that the probes detect several loci other than 4q35.
    We have examined 158 Japanese individuals, including 38 FSHD patients from 18 families, and found that all but one of the FSHD patients had smaller (<28 kb) EcoRI fragments which co-segregated with the disease. This included patients who had a severe inflammatory response in muscle, and suggested the presence of different immune effector mechanisms in FSHD from what have been described in either Duchenne muscular dystrophy or inflammatory myopathies.
    We also found two severely affected patients who had the shortest EcoRI fragment identified to date that contains no more than one 3.3 kb repeat unit. This result suggests that the short fragment may provide a means of understanding the molecular details involved at the site of the chromosomal rearrangement in FSHD. However, there is an urgent need for more studies to settle the question as to whether the size of the fragment is actually related to the severity of the disease.
    Nonetheless, we are now entering a new era, and we are beginning to understand FSHD. We hope that we can find the gene and its product in the not too distant future. This, in turn, will contribute to genetic counseling and treatment of the disease.

    Kiichi Arahata
    Hideo Sugita
    J.H. Lee
    Department of Neuromuscular Research
    National Institute of Neuroscience, NCNP
    4-1-1 Ogawa-higashi, Kodiara
    Tokyo, 187, Japan
    Interest(s): Molecular genetics and clinical

    Los Alamos, NM
    Michael R. Altherr
    Life Sciences
    Group LS 2, M880
    Los Alamos National Laboratory
    Los Alamos, New Mexico 87545
    Interest(s): Molecular genetics
    This group has developed hybrid cell lines (hamster cells with small pieces of chromosome 4). These cell line facilitate mapping and isolation of new probes. Lab is analyzing transcripts in the FSH region.


    Waltham, MA
    Barbara Weiffenbach
    Susan Manning
    Ziying Liu
    Genome Therapeutics, Corp.
    1365 Main Street
    Waltham, Massachusetts 02154
    Interest(s): Molecular genetics

    Paris, France
    Michael Fardeau
    Institut National de La Sante et
    de le Recherche Medicale
    17 Rue du Fer-a-Moulin
    75005 Paris
    France
    Interest(s): Clinical

    Marburg, West Germany
    Manuela Koch
    Institut for Humangenetic der Philipps-Universitat
    Bahnhofstr. 7A
    D-3550 Marburg
    West Germany
    Interest(s): Molecular genetics

    Leiden, Netherlands
    Nijmegen, Netherlands
    Egbert Bakker presented a poster at the American Society of Human Genetics meeting held in Montreal in late October 1994 on diagnostic testing for FSHD individuals within the Netherlands. The presentation stated that the Department of Human Genetics at Leiden University would be offering diagnostic testing for FSHD families and sporadic cases. Testing is limited to Dutch families within the Netherlands.

    Oebo F. Brouwer
    Department of Neurology
    University Hospital Leiden
    P.O. Box 9600
    2300 RC Leiden
    The Netherlands

    Rune R. Frantz
    Nicole Datson
    Judith C.T. van Deutekom
    Marten Hofker
    Egbert Bakker
    Cisca Wijmenga*
    Institute for Anthropogenetica
    MGC-Department of Human Genetics
    Wassenaarseweg 72
    2333 AL Leiden,
    The Netherlands

    George W.A.M. Padberg
    University Hospital Nijmegen St Radboud
    Department of Neurology
    Reinier Postlaan 4
    P.O. Box 9101
    6500 HB Nijmegen
    The Netherlands
    Interest(s): Molecular genetics and clinical

    *Cisca Wijmenga is currently with The National Center for Human Genome Research, Laboratory of Gene Transfer, National Institutes of Health, Building 4G, Room 3A14, 9000 Rockville Pike, Bethesda, MD 20892

    Rochester, NY
    University of Rochester investigators are pursuing two major lines of research in facioscapulohumeral dystrophy: (1) molecular studies targeted at cloning the FSHD gene and; (2) clinical studies focusing on developing treatment for FSHD.
    The molecular studies are spearheaded by Denise Figlewicz, Ph.D., in collaboration with Rabi Tawil, M.D., James Forrester, and Robert C. Griggs, M.D. Genes close to the 4q telomere are being sought as possible candidates for the FSHD gene.
    The clinical studies, directed by Dr. Rabi Tawil in collaboration with Dr. Griggs, and with Drs. Jerry Mendell and John Kissel of Ohio State University, are defining the natural history of FSHD and will make it possible to detect beneficial effects of treatment trials. Our first treatment trial, using the corticosteriod prednisone, is well underway. New trials with other agents are under development.

    Robert Griggs
    Rabi Tawil
    Denise Figlewicz
    Lynn Cos
    James Forrester
    Michael McDermott
    University of Rochester School of Medicine
    Department of Neurology
    601 Elmwood Avenue
    P.O. Box 673
    Rochester, New York 14642
    Interest(s): Molecular genetics and clinical

    Durham, NC
    Margaret Pericak-Vance
    John R. Gilbert
    Duke University Medical Center
    227D Bryan Research Building
    P.O. Box 2900
    Durham, North Carolina 27710
    Interest(s): Molecular genetics

    Iowa City, IA
    Katherine Matthews
    Brian Shute
    Kate Mills
    Julie Fedderson
    Holly Bailey
    Jeff Murray
    Department of Pediatrics
    216 MRC
    University of Iowa Hospitals and Clinics
    Iowa City, Iowa 52242
    Interest(s): Molecular genetics and clinical
    Group has a mouse mutant that may be a mouse version of FSHD.

    Boston, MA
    Please see High Protein and Exercise
    Therapy (HPET) article on page 4

    David C. Preston
    Neuromuscular Service
    Brigham & Women's Hosptial
    75 Francis Street
    Boston, Massachusetts 02115

    Barbara E. Shapiro
    Neurology Service
    Massachusetts General Hospital
    15 Parkman Street, Acc #835
    Boston, Massachusetts 02114
    Interests: Clinical and nutritional

    Sao Paulo, Brazil
    M. Rita Passos-Bueno
    Departmento de Biologia
    Instituto de Biociencias
    Universidade de Sao Paulo
    Sao Paulo, C.P. 11461
    CEP 05422-970 S.P. Brazil
    Interest(s): Clinical and occupational

    Irvine, CA
    Sara T. Winokur
    Ulla Bengtsson
    Rachelle Markovitch
    John Wasmuth
    Michael Altherr*
    Department of Biological Chemistry
    University of California, Irvine
    Irvine, CA 92717
    Interest(s): Molecular genetics

    *Michael Altherr is currently with the Genomics and Structural Biology Group, LANL, Los Alamos, NM

    Manchester, England
    London, England
    Jane Hewitt
    Robert Lyle
    Lorraine Clark
    Elizabeth M. Valleley
    Laboratory of Human Molecular Genetics
    Department of Cell and Structural Biology
    3.239 Stopford Building
    University of Manchester
    Oxford Road
    Manchester M13 3PT
    England

    Robert Williamson
    Tracy Wright
    Department of Biochemistry and Molecular Genetics
    St. Mary's Hospital Medical School
    Imperial College of Science, Tech., & Medicine
    Norfolk Place
    London, W21PG
    England
    Interest(s): Molecular genetics

    Cardiff, England
    Bristol, England
    Peter Harper
    Meena Upadhyaya
    Institute of Medical Genetics
    University of Wales College of Medicine
    Heath Park
    Cardiff CF4 4XN
    England

    Peter Lunt
    Philip Jardine
    Institute of Child Health
    Bristol Royal Hospital for Sick Children
    St. Michael's Hill
    Bristol BS2 8BJ
    England
    Interest(s): Molecular genetics and clinical

    Columbus, OH
    Jerry Mendell
    Department of Neurology
    Ohio State University
    Columbus, Ohio 43210
    Interest(s): Clinical

    Italy
    L. Felicetti
    Intituto de Biologia Cellulare, CNR
    Interest(s): Molecular genetics

    ST. Petersburg, Russia
    Valery M. Kazakov
    Department of Neurology
    Pavlov's Medical Institute
    L. Tolstoy Str. 6/8
    197089 St. Petersburg
    Russia
    Interest(s): Clinical

    Davis, CA
    Please see Reasearch Paper on pages 13-16
    Please see Fowler Receives Krusen Award article on page 27

    M. Brewer
    D.D. Kilmer
    R. T. Abresch
    S.G. Aitkens
    G.T. Carter
    W.M. Fowler
    E.R. Johnson
    C.M. McDonald
    N.J. Wright
    Research and Training Center on Neuromuscular Disease
    Department of Physical Medicine and Rehabilitation
    University of California, Davis
    TB 191
    Davis, CA 95616-8665
    and
    National Institute on Disability & Rehabilitation Research
    The research is being conducted by the Research and Training Center on Neuromuscular Disease and the National Institute on Disability & Rehabilitation Research.
    Interest(s): Rehabilitation, Occupational and Clinical

    FSH Office Updates


    East Coast Office
    As your executive director, it has been my pleasure to meet with you by phone, mail and in person. The past months have been busy and fruitful for our organization. We have met our 1994 budget through your memberships and donations, and doubled our mailing list for information and networking nationally. I have continued to follow up on your requests for resources, groups, legislative initiatives and support.
    Many of you have called, breaking through the isolation of being labeled with FSHD, to speak to someone else with this problem. You often tell me of your frustration with misinformation and misunderstanding, and your concerns about family and jobs. You tell me that I am the first person with FSHD you have met and express relief with the recognition of shared lifelong confusion which the FSH Society single-mindedly works to solve.
    We are looking forward to planning a national meeting in 1995 for our membership, as well as expanding our networking activities. Your response to our survey on bulletin boards, groups, meetings and research initiatives is imperative so that we can carry out the activities you wish to support. I welcome your calls and comments and look forward to greater strides in our second year of advocacy.
    --Carol A. Perez, M.Ed., C.R.C.

    West Coast Office
    The FSH Society is pleased with the events of the past several months. We continue to successfully educate and inform the public including many physicians, health providers and relevant governmental funding agencies. The Public Health Services has recently awarded an NIH grant for FSHD research. There are additional outstanding researchers committed to the study of FSHD, and we anticipate success for those and others in obtaining needed support through the Public Health Services. This resource, beyond the generous support currently available from the Muscular Dystrophy Association, is very important.
    As you will note in this issue of the FSH Watch, the progress toward understanding FSHD and its cause, and developing treatments is encouraging. The Society will continue to apprise you of coming advances, and the West Coast Office remains available for assistance with your calls and inquiries.
    Thank you for your generosity in supporting our efforts. I hope that those of you who have not yet joined will consider doing so in 1995. If there are those of you with experience in fund raising (and I am certain there are), I would ask that you consider offering your Society the benefits of your background and expertise. Such activities guarantee our ability to provide current and future services to many of you.
    --Stephen J. Jacobsen, Ph.D.


    Feedback . . .
    Talk to Us!
    The FSH Society board and counsel have recently discussed creation of additional useful services and activities for its members. Please write us with your opinion of the following considerations:

    National Membership Conference
    What are your thoughts regarding a national membership meeting in late 1995 or early 1996? It would provide an opportunity for members and interested individuals to meet and share information and views about many topics regarding FSHD and future activities consistent with the Society's goals. Included in the meeting would be an opportunity to receive information from individuals of the health services and research community in a lecture and question/answer format. The Society would organize and cover expenses for the meeting itself, but could not reimburse you for your airfare or hotel accommodations of a two-day event. We would very much appreciate a response from those of you who are both interested and would intend to attend.

    National Scientific Conference
    There is very promising activity in both isolation and characterization of the FSHD defect and FSHD treatment trials. Periodic meetings of professionals in the medical and research communities and various governmental agencies are an important part of this activity. The Society wishes to sponsor such a symposium in early 1996. The Research & Education Fund, described below, would make it possible for members to help the Society in this endeavor. We would very much appreciate your comments. Would you wish to donate to the Fund for this purpose?

    Bulletin Board
    The FSH Society can establish a computer bulletin board accessible by members with a computer, modem and software services such an Internet, Prodigy, Compuserve and America On-line. Do you have or have accesses to such services? If so, are you interested in, and would you use, a bulletin board? Would you like a format where information regarding FSHD issues (i.e., research and clinical studies update, questions or general concern to FSHD individuals, etc.) is available by computer? Would you be interested in a bulletin board for conversational interchange among members?

    Research & Education Fund
    The FSH Society can begin a Research & Education Fund to specifically promote and sustain productive activities related to basic and clinical FSHD studies in the medical research community. Use of monies from such a fund would be made on a case by case determination. Such activities would follow the stated goals of the Society and be totally accountable to all of the Society's donors and members. Activities supported by the Fund would be independent of its other current activities, i.e., administrative, legislative activities, newsletter, and support groups. Would you support and contribute to such a fund?

    Please write to us with your feedback on these issues to:
    FSH Society
    3 Westwood Road
    Lexington, MA 02420

    Dear FSH Society . . .


    I suggest you settle on FSH as the style for the society in its newsletter and correspondence use for our shared muscular disorder. It is confusing to read of FSH, FSHMD, or the awkward FacioScapuloHumeral Muscular Dystrophy. Similarly, decide whether to call this a rare or common disease!
    --R.W.H., South Dennis, MA

    Editor's Note: Our thanks to all of you who wrote to ask that we adopt a more standardized way of referring to FSHD. We chose FSHD (FacioScapuloHumeral Disease) because it becomes a term that includes the differing disorders associated with FSH. We also chose to use "FacioScapuloHumeral Muscular Dystrophy" when writing out the word to facilitate pronunciation and to clarify that FSHD is a form of muscular dystrophy. We hope that this standardization of terminology is helpful to our readers.

    Current Happenings in FSHD Research


    Two meetings have been held in the past year where information pertaining to FSHD was discussed. The 8th International Congress on Neuromuscular Diseases was held in Kyoto, Japan in July. During the course of that meeting, an International Symposium on FSHD was held. The Kyoto symposium was organized by Dr. Kiichi Arahata (National Institute of Neuroscience--NCNP, Tokyo, Japan) and Dr. Theodore Munsat (Tufts University, Boston, MA).

    In October 1994, the annual American Society of Human Genetics meeting was held in Montreal, Canada. At the ASHG meeting, the Muscular Dystrophy Association sponsored a workshop on FSHD. Both meetings were well attended by researchers and clinicians from the international community working on FSHD.

    Recently, a paper was published showing an association between a DNA deletion and FSHD. The paper was presented at both meetings. One research team reported that the size of this deletion is associated with age of onset and clinical severity of FSHD. However, it is difficult to understand this result given the great variability in FSHD--associated symptoms within families where all affected members contain DNA deletions of the same size.

    Researchers continue to search for the FSHD gene on chromosome 4. However, no group has announced the identification of the FSHD gene. The search for the FSHD gene is complicated by the presence of sequences in the FSHD gene region that are also found on several other chromosomes. The research community has acknowledged that this is a very difficult region of the chromosome to work within and it presents many complex problems. However, all groups remain cautiously optimistic, and the race to find the gene continues to be intensely competitive.

    Several research groups are actively searching for the FSHD gene by identifying and studying genes that map near the FSHD associated deletions. They include: Dr. Michael Altherr (Los Alamos National Laboratory), Dr. Denise Figlewicz (University of Rochester), Dr. Rune Frantz (University of Leiden, The Netherlands), Dr. Jane Hewitt (University of Manchester, U.K.), Dr. Kathy Mathews (University of Iowa), Dr. Meena Upadhyaya (University of Cardiff, U.K.), Dr. Kiichi Arahata (National Institute of Neuroscience--NCNP, Tokyo, Japan), Dr. Sara Winokur (University of California, Irvine) and Dr. Barbara Weiffenbach (Collaborative Research Division, Genome Therapeutics Corporation, Waltham, MA).

    Lastly, several research groups are pursuing clinical studies. Dr. Robert Griggs and Dr. Rabi Tawil (University of Rochester), and Dr. Jerry Mendell are conducting natural history studies on FSHD as well as drug therapy trials. Dr. Shapiro (Massachusetts General Hospital, Boston, MA) and Dr. Preston (Brigham & Women's, Boston, MA) are conducting High Protein Diet and Exercise Therapy (HPET) trials. Please see related article on this study found on page 4.

    Research Paper:


    Impairment and Disability Profiles of Neuromuscular Diseases:
    FacioScapuloHumeral Muscular Dystrophy
    D.D. Kilmer, M.D.; R.T. Abresch; S.G. Aitkens; G.T. Carter, M.D.; W.M. Fowler, Jr., M.D.; E.R. Johnson, M.D.; C.M. McDonald, M.D.; N.J. Wright, RTC/Neuromuscular Diseases, Department of Physical Medicine & Rehabilitation, University of California, Davis and National Inst. on Disability & Rehabilitation Research
    Editor's Note: We have placed this research paper in the center of the newsletter so you may conveniently pull it out and save it for future reference. Reprinted with permission.

    FacioScapuloHumeral Muscular Dystrophy (FSHD) is one of several disorders included in the FacioScapuloHumeral syndrome. This syndrome includes individuals with facial involvement in spinal muscular atrophy and congenital myopathy. FSHD can occur with or without inflammatory cells in the muscle (as in polymyositis) and some cases are associated with Coat's disease (deafness).
    FSHD is a myopathy, usually slowly progressive, and inherited as a dominant trait. It is a rare neuromuscular disease with an estimated prevalence between 10 to 20 cases per million individuals. While the characteristics are well known (weakness of the face, shoulder and hip girdle, and anterior compartmental muscles of the leg), description of these characteristics has been primarily based on clinical observations, and there have not been any studies using specific measurements to evaluate each characteristic in terms of a natural history profile. In addition, there have been few, if any, investigations of the incidence and description of some of the characteristics such as contractures, spine deformity, pulmonary and cardiac function, intellectual and cognitive function, and psychosocial adjustment.
    The purpose of this study was to develop a comprehensive impairment and disability profile for FSHD. Impairment was evaluated by measurements of strength, contractures, spine deformity, cardiac and pulmonary function, and intellectual capacity. Disability evaluations consisted of measures of mobility and upper extremity function, cardiac and pulmonary disease, and psychosocial adjustments.
    Fifty-three individuals followed in a regional neuromuscular disease clinic for 1982-1992 were reviewed. Thirty-two were males and 21 were females. Average age was 38 years with an average age of symptom onset of 16 years at the time of the first clinic visit. Five individuals were nonambulatory, and age at loss of ambulation averaged 33 years. Four were known to have died during the ten year period with a mean age of death at 68 years. All participants from the clinic did not receive all measurements so the individuals in each of the impairment and disability profiles would be considered as samples of the larger clinic population.
    When appropriate, results were compared with able-bodied subjects (controls) and/or established reference standards. The effect of age and disease duration was evaluated by both one-time event (cross sectional) and longitudinal analysis. In the former, the first measurement obtained on every subject was plotted against years of age and disease duration. In the latter, each measurement for each individual for a three or more year period of time was analyzed for any age or disease duration effect.

    Body Composition Profile
    Anthropometric and body composition measurements were obtained in a sample of 14 individuals. Anthropometric measures of height, bisacromial and billiac diameters, wrist and ankle circumferences, and chest depth were within normal limits in the FSHD group when compared to gender and age matched control subjects and reference standards. Weight and the circumferential diameter of the forearm were also within normal limits. The calf (-7%), thigh (-10%), and upper arm (-11%) circumferences were, however, significantly reduced in the FSHD group indicating mild loss of musculature. Body fat, as evaluated by skin fold thickness at five sites, was within normal limits. For all parameters, there was no significant age or disease duration effect indicating that muscle wasting was very slowly progressive.

    Muscle Weakness Profile
    Muscle strength was evaluated by both manual muscle testing (MMT) units and quantitative measurements of strength. MMTs: MMTs were obtained in a sample of 22 individuals. Grading was on a 0-5 scale, in which 5 is normal for 34 muscle groups. The total strength grade for all muscle groups combined was 3.7 MMT units (complete range of motion against gravity plus minimal resistance from the therapist). In cross-sectional one-time event analysis, there was a very slow but significant rate of decline in mean total strength of -0.022 MMT units per year of disease duration.
    Average grades for clusters of muscle groups showed that the lower extremity muscles were weaker than the upper extremity muscles; the proximal muscles weaker than the distal muscles; extensor muscles weaker than flexor muscles; and the ankle dorsiflexors weaker than the plantar flexors. In general, the rate of strength decline was more rapid in the weaker muscle groups of the lower extremities.
    While the mean MMT grades and rates of decline of strength for the dominant and non-dominant side muscle groups was the same, a combination of selected upper extremity muscles were significantly weaker in the dominant upper extremity muscles.
    Two patterns of weakness appeared to be present. One group of individuals showed greater weakness of the hip girdle muscles, while the other group had greater weakness of the ankle muscles at the same point in time. The former was more common. In addition, an early age of onset of less than 15 years was associated with greater likelihood of more severe weakness. Individual longitudinal measurements of a three or more year period were quite heterogeneous showing worsening in some individuals and relative stability in others.

    Quantitative Measurements
    of Strength
    Quantitative measurements of the static (isometric) strength of the knee flexors and extensors, elbow flexors and extensors, shoulder flexors and extensors, neck flexors and extensors, hand grip, and pinch were obtained in 14 individuals with FSHD and compared to 90 gender and age-matched, able-bodied subjects. The isometric strength of the muscles in FSHD individuals was reduced between 36 and 68 percent for the various individual measures. In addition, grip strength of FSHD individuals was significantly weaker than the control group in the dominant but not the non-dominant limb. Measurements of the dynamic (isokinetic concentric and eccentric) strengths of the knee flexors and extensors and elbow flexors and extensors demonstrated a similar pattern with average reductions of strength between 33 and 47 percent for the various individual measures.
    In summary, manual muscle testing indicated greater involvement of the proximal musculature; although a subgroup showed early weakness of the ankle dorsiflexors. Asymmetric upper extremity weakness was noted with greater weakness of certain muscles in the dominant (most used) limb muscle groups. Possible overwork weakness of the dominant limb also seemed to be present based on grip strength being weaker in the dominant limb. As a group, weakness appeared to progress very slowly, although certain individuals showed a more rapid progression of weakness.

    Limb Range of Motion
    (ROM) Profile
    ROM was measured in a sample of 22 individuals to evaluate contractures using standard gonlometry. Measurements included shoulder abduction, elbow and wrist extension, hip adduction for iliotibial band tightness, hip and knee extension and ankle dorsiflexion. For all joints combined, the frequency and severity of contractures were quite low. Although 42% had loss of ROM of 5 degrees or greater at any joint, only 36% had loss of ROM of 20 degrees or more, and the mean contracture index (CI - a product of the percentage of patients with contractures x the maximal loss of ROM divided by 1,000) was only 0.63 (a high CI would be greater than 1.0 and a low CI less than 0.5). Loss of ROM was most frequent (25%) or severe (CI - 1.68) at the shoulder.
    There was no significant age or disease duration effect on ROM. Therefore, contractures were not a major characteristic of FSHD but, when occurring, were most frequent at the shoulder. Contractures in all of the major neuromuscular diseases is reviewed in the FOCUS section of the February 1994 RTC newsletter.

    Spine Deformity Profile
    In a sample of 45 individuals with FSHD, only 16 (35%) had clinical evidence of spine deformity. Of these, 9 (56%) had hyperlordosis (increased lumbar curve) with or without scoliosis, most with a disease duration over 20 years. In those who had spine X-rays, the spinal curve ranged from 5 to only 25 degrees. While the lordosis increased with age and disease duration, there was no significant progression of the scoliosis. Severe lordosis, therefore, appeared to be a major characteristic of FSHD while the incidence of scoliosis was low and the severity mild and relatively non-progressive.

    Pulmonary Function and Restrictive Lung Disease
    (RLD) Profile
    Pulmonary function tests (PFT) were obtained in a sample of 23 individuals. There was only mild impairment on routine (spirometric) PFTs with the group mean for most parameters within normal reference standards. Eighty-two percent vital capacity (VC) was less than 80% of the predicted in 48% of the individuals (80% or above is considered normal), but only less than 50% in 13% of the individuals (50% or less is considered to be severe involvement).
    There was, however, greater impairment in the static airway pressures. Maximum expiratory pressures (MEPs) were about 44% of normal while the maximum inspiratory pressures (MIPs) were only 74% of normal. Since expiatory pressures were more affected than inspiratory pressures, the MEP:MIP ratio was 1.1 which is significantly less than the normal value of 1.8.
    The results suggest that the expiatory muscles are more affected than the inspiratory muscles in FSHD, resulting in only mildly abnormal spirometric PFTs since the latter primarily reflect active inspiratory functions. There was no significant age or disease duration effect on PFT measurements, while the difference in mean percent VC between individuals with and without spine deformity was statistically significant, this observation was not of clinical importance since only 4% had a predicted percent VC below 51%.
    Only 10 (22%) of 45 individuals in the study had significant pulmonary complications such as pneumonia. There was no age or disease duration effect on the frequency. All individuals with low predicted VCs had pulmonary complications, and those with spine deformity had a 34% higher frequency of pulmonary complications than those without deformity. No one had acute or chronic respiratory failure requiring mechanical ventilation.
    In summary, while there was evidence of restrictive lung disease (RLD) in half of the sample population, only 4 individuals (17%) had moderate or severe RLD. The relatively mild and essentially non-progressive impairment in pulmonary function and the low frequency of respiratory complications indicates that RLD is usually not a major problem in FSHD.

    Cardiac Function and Cardiovascular Disease Profile
    Electrocardiograms (ECGs) were obtained in a sample of 32 individuals. While 23 (77%) ECGs were reported as abnormal, most had minor findings. The highest percent of abnormalities were bradycardia (56%), and abnormal Q-waves (40%), and increased R/S ratio in lead V (28%). Since 69% of the abnormal ECGs occurred in individuals with a disease duration greater than 15 years, there appeared to be a disease duration effect. However, all of the ECG findings cannot be attributed to neuromuscular disease since the age range extended to 78 years.
    Fifteen (28%) of 53 individuals had a history of significant cardiovascular complications such as chest pain, palpitations or dyspnea. There was no disease duration effect, or correlation between complications and ECG abnormality. Therefore, the clinical significance of the high percentage of abnormal ECGs is unclear especially since most abnormalities were mild.
    Intellectual and
    Memory Function Profile
    Scores on all neuropsychological tests in a sample of 13 adults were within normal limits for intellectual, memory and cognitive function. Full scale IQ was 105+14, and the percentage of individuals with low average full scale IQ scores (<89) was only 9%. On the arithmetic subtests, 31% were in the impaired range as compared to 15% for published norms. There was no significant difference between verbal and performance IQ indicating the weakness did not affect IQ. In those tested for three or more years, there was no change over time indicating that there was no disease duration effect.

    Psychosocial Adjustment
    A group of 13 individuals with FSHD exhibited few neuropsychological symptoms. Several subtests of the MMPI demonstrated higher percentages of abnormality than normal, but these occurred in all neuromuscular diseases studied, and may reflect problems applying standard neuropsychological tests to a physically disabled population. Another scale of psychological function, the SPS, showed 46% of FSHD individuals having an elevated degree of hopelessness and 39% having elevated levels of the hostility and negative self-evaluations subscores. On the contrary, 31% scored high on the achievement through independent subtest of the CPI, suggesting excellent function in this area.

    Mobility and Extremity Function Profiles
    Upper and lower extremity timed motor performance tests (TMP) and function evaluation levels were obtained in 22 individuals. Functional grades consisted of six levels of function for the upper extremities and 11 levels for the lower extremities. On both scales, grade 1 was normal function. For the upper extremities, 32% were grade 1, while 23% required elbow flexion in order to raise the arms fully; 41% were only able to raise an 8 oz glass to the mouth level, and 4% could not raise the glass to the mouth. In the lower extremities, 81% were able to walk or climb stairs without assistance or requiring aid of a railing. Measuring the performance of timed motor performance tests, in general it took 2-6 times longer for FSHD individuals to perform TMP tasks. This demonstrates subtle increases in time required to perform functional activities in these individuals which may not be evident without formal testing.

    Adaptations to Exercise Training
    A moderate resistance muscle strengthening exercise program was carried out with two individuals having FSHD, using the same regimen described in the Research Update Impairment and Disability Profile of Hereditary Motor Sensory Neuropathy in the January 1993 RTC Newsletter. There was no difference noted from the response described in that report, i.e., the exercise program had no deleterious effect.

    Summary
    This natural history profile of FSHD demonstrates its clinical heterogeneity; that is, affected individuals may be clinically impaired to a much greater extent than previously described. Limb contractures were infrequent and mild, and spine deformity primarily limited to hyperlordosis. There was a relatively mild and essentially non-progressive impairment in pulmonary function and low frequency of respiratory complications. Intellectual function was normal.
    There was a slow but significant rate of decline of overall strength per year. The lower extremity muscles were weaker than the upper extremity muscles, proximal weaker than distal, and extensor muscles weaker than flexor muscles. The rate of yearly strength decline was more rapid in the weaker muscle groups. Muscle strength was weaker on the upper extremity dominant side with MMTs, and quantitatively measured grip strength. The FSHD group was weaker than the control group in the dominant, but not the non-dominant, side indicating the possibility of overwork weakness. Two patterns of weakness appeared to occur. Some individuals showed greater weakness of the hip girdle muscles while others had greater weakness of the ankle muscles at the same point in time. Weakness led to mild disability evident by reduced upper and lower extremity function and slowed motor performance.

    FSH Society Statement


    FacioScapuloHumeral Muscual Dystrophy (FSHD) is a muscle disease with a frequency in the population of between 4 and 10 per 100,000. The disease is inheritable; the responsible gene is located on chromosome 4. The expression of symptoms requires inheritance of the defective gene from only one affected parent. An individual of either sex has a fifty percent chance of inheriting the gene from that affected parent.
    The disease pathology includes a progressive loss of skeletal muscle with a usual pattern of initial noticeable weakness of facial, scapular and upper arm muscles and subsequent developing weaknesses of other muscles of the torso and lower limbs. Early facial weaknesses distinguish this disease from other neuromuscular diseases that can be similar in appearance. The age of onset is variable, as is the eventual extent and degree of muscle loss, but noticeable muscle weaknesses are usually present by the age of twenty and are recognizable in all but a small percentage of adults who carry the gene.
    The prognosis includes both a loss of muscular strength that limits personal and occupational activities of most FSHD individuals, and a loss of mobility in perhaps twenty percent of the cases. Hearing loss and retinal abnormalities associated with FSHD have been reported, but the frequency of these effects and their relationship, if any, to the causative gene for the muscle defect are uncertain.
    The FacioScapuloHumeral Society (FSH Society) is an independent, non-profit and tax-exempt U.S. corporation organized to address issues and needs specifically related to FacioScapuloHumeral Muscular Dystrophy (FSHD). Papers certifying its incorporation, bylaws and tax-exempt status are deposited at the corporation's east and west coast offices and the office of its General Counsel in Washington, D.C.

    Q & A


    The FSH Society establishes our FSHD information column in this edition. Questions you ask will be answered by professionals knowledgeable in FacioScapuloHumeral Muscular Dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy. A collection of responses will be updated and published in an information booklet. Please address your FSHD questions in writing to: Stephen J. Jacobsen, Ph.D., FSH Society, Inc., West Coast Office, 1507 Traske Road, Encinitas, CA 92024.


    Q. Does FSHD affect the heart muscle?

    A.Unlike some of the other muscular dystrophies, such as Duchenne's muscular dystrophy, the heart muscle is not involved in FacioScapuloHumeral Muscular Dystrophy (FSHD). The life span and quality of life in individuals with FSHD is not affected by heart muscle involvement.
    There are, oddly enough, problems that can occur with the electrical system in the heart. Older studies have shown rare cases of atrial standstill in patients with FSHD. Atrial standstill is a phenomenon in which the two small chambers of the heart are motionless. Since these chambers do not contribute more than 10% to the effectiveness of the heart, patients with this disorder are unaware that they have this problem. These older studies may be misleading, though, because they probably included individuals with Emery-Dreifuss Muscular Dystrophy, a more recently recognized muscular dystrophy that is similar to FSHD but also has contractures of the elbow and achilles tendons.
    A more recent study, that was published in 1990, in which 30 individuals with FSHD were studied by cardiac cauterization using electrical catheters, showed no atrial standstill. They did demonstrate that atrial fibrillation, a condition in which the two small chambers of the heart fibrillate causing an irregular heart beat, was more easily induced in patients with FSHD than in unaffected individuals. They concluded that FSHD is probably not associated with atrial standstill, but may have a tendency towards atrial fibrillation. In clinical studies, atrial fibrillation has not been seen, and what occurs in the laboratory does not always reflect real life.
    In an unpublished study from the University of California, Davis, researchers found frequent abnormalities on the electrocardiogram (ECG). The most common abnormality was a slow heart rate. They also found slowed electrical conduction through the heart. This slowed conduction was also demonstrated in the 30 patients in the 1990 study mentioned earlier. The researchers at Davis also found that 28% of the patients studied complained of palpitations, chest pain, or shortness of breath. The significance of these complaints is unknown as heart disease is, in general, not a problem in FSHD, and the electrical problems found on ECG are unlikely to cause these complaints.
    In summary, FSHD is associated with electrical abnormalities which are usually benign. It is not associated with muscle failure and individuals can expect to live their lives free of heart disease.
    --William R. Lewis, III, M.D., Cardiologist, Cardiovascular Medicine, School of Medicine, University of California, Davis, is an FSH Society board member and member of the Scientific Advisory Board of the FSH Society.


    Q.How successful is Scapula Fixation (shoulder)?

    A.Adults with FacioScapuloHumeral Muscular Dystrophy often ask about the advisability of having a surgical procedure performed where the scapula is fixated to the posterior rib cage (scapulothoracic arthrodesis). This procedure can position the shoulder in such a way that the upper arm is more functional. The surgery is not always successful, however, and carries some risks with it including the possibility of a nerve injury, restricted shoulder motion, and even a punctured lung. More than half of the patients that undergo this procedure are pleased with the results, but not every orthopedic surgeon is comfortable performing this procedure.
    Accordingly, it is best to "shop" for surgical opinions among the orthopedic surgeons within your community. No one surgeon nor surgical team in North America actually specializes in this procedure. For those interested in reading further, consider the article published by Dr. Wilton Bunch and Dr. Irwin Siegel in The Journal of Bone and Joint Surgery in March, 1993.
    --Paul Schultz, M.D., Neurologist, Director of Muscle Disease Clinic,
    Children's Hospital, San Diego, California, is an FSH Society board member and
    Chairman of the Scientific Advisory Board of the FSH Society, Inc.

    Washington Update


    Congress finished its session frustrated over the lack of any progress on the major issue on its agenda--health care reform. The frustration was especially high because the elections are unlikely to clarify further the public's wishes regarding restructuring the health care delivery system. In addition, the prospect of significant Republican gains and possible control of either the House or Senate (or both) has dampened the hopes of advocates of universal coverage.
    Before leaving town, Congress did pass the appropriations for the National Institutes of Health (NIH). The National Institute on Neurological Disorders and Stroke (NINDS) received a 3.2% increase which was about the average increase for NIH as a whole. This low increase, barely keeping pace with the effects of inflation, reflect the continuing struggle to lower federal spending. Funding for NIH comes out of "discretionary spending" which is controlled annually by Congressional appropriations as opposed to "entitlement spending" which is set by law. It is not subject to annual control, and regarded as politically dangerous to try to change.
    The next fiscal year (1996) may look better. The NIH budget has been submitted to the Office of Management and Budget (OMB) which drafts the President's budget. The Department of Health and Human Services (of which NIH is a part) is recommending a 4.2% increase for NIH. In addition, it is recommending an additional $16 million for Decade of the Brain research, similar to special initiatives for AIDS and breast cancer. This is the kind of special initiative that advocates for the Decade of the Brain have been seeking.
    The National Coalition for Research in Neurological Disorders (NCR), of which the FSH Society is a member, is calling on all members to write President Clinton urging that his budget include the special initiative on brain research but at a level of $46 million, not $16 million to reflect the far greater numbers of individuals with brain disorders as opposed to AIDS or breast cancer.
    --R. Morgan Downey,
    FSH Society General Counsel

    Research Bibliography


    1993 n n n
    Tawil R, Storvick D, Feasby TE, Weiffenbach B, Griggs RC, (1993). Extreme variability of expression in monozygotic twins with FSH muscular dystrophy. Neurology 43(1):345-48.
    Wevers CW, Brouwer OF, Padberg GW, Nijboer ID, (1993). Job perspectives in facioscapulohumeral muscular dystrophy. Disabil Rehabil 15(1):24-8 93160515.
    Brouwer OF, Wijmenga C, Frants RR, Padberg GW, (1993). Facioscapulohumeral muscular dystrophy: the impact of genetic research. Clin Neurol Neurosurg 95(1):9-21.
    Bunch WH, Siegel IM, (1993). Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. Review of seventeen procedures with three to twenty-one year follow-up. J Bone Joint Surg Am 75(3):372-6.
    Haraguchi Y, Chung AB, Torroni A, Stepien G, Shoffner JM, Wasmuth JJ, Costigan DA, Polak M, Altherr MR, Winokur ST, et al, (1993). Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus. Genomics 16(2):479-85.
    Passos-Bueno MR, Wijmenga C, Takata RE, Marie SK, Vainzof M, Pavanello RC, Hewitt JE, Bakker E, Carvalho A, Akiyama J, et al, (1993). No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers. Hum Mol Genet 2(5):557-62.
    Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, et al, (1993). Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events. Nat Genet 4(2):165-9.
    Eggers S, Passos-Bueno MR, Zatz M, (1993). Facioscapulohumeral muscular dystrophy: aspects of genetic counseling, acceptance of preclinical diagnosis, and fitness. J Med Genet 30(7):589-92.
    Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants R, Harper PS, Lunt PW, (1993). Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Hum Mol Genet 2(7):981-7.
    Gilbert JR, Stajich JM, Wall S, Carter SC, Qiu H, Vance JM, Stewart CS, Speer MC, Pufky J, Yamaoka LH, et al, (1993). Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 53(2):401-8.
    Wijmenga C, Winokur ST, Padberg GW, Skraastad MI, Altherr MR, Wasmuth JJ, Murray JC, Hofker MH, Frants RR, (1993). The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Hum Genet 92(2):198-203.
    Jardine P, Jones M, Tyfield L, Upadhyaya M, Lunt P, (1993). De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy [letter] In: Clin Genet 44(3):167.
    Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen G-JB, Hewitt JE, Hofker MH, Frants RR, (1993). Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. Hum Mol Genet 2(10):1667-72.
    Winokur ST, Schutte B, Weiffenbach B, Washington SS, McElligott D, Chakravarti A, Wasmuth JH, Altherr MR, (1993). A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 53(4):874-80.
    Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE, (1993). Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet 2(10):1673-78.
    Griggs RC, Tawil R, Storvick D, Mendell JR, Altherr MR, (1993). Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology 43(11):2369-72.
    Jakab E, Gledhill RB, (1993). Simplified technique for scapulocostal fusion in facioscapulohumeral dystrophy. In: J Pediatr Orthop 13(6):749-51.
    Tawil R, Storvick D, Weiffenbach B, Altherr MR, Feasby TE, Griggs RC, (1993). Chromosome 4q DNA Rearrangement in Monozygotic Twins Discordant for Facioscapulohumeral Muscular Dystrophy Human Mutations 2:492-94.

    1994 n n n
    Personius KE, Pandya S, King WM, Tawil R, (1994). McDermott MP FacioScapuloHumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys Ther 74(3):253-63.
    Brouwer OF, Padberg GW, Wijmenga C, Frants RR, (1994). FacioScapuloHumeral muscular dystrophy in early childhood. Arch Neurol 51(4):387-94.
    Tawil R, McDermott MP, Mendell JR, Kissel J, Griggs RC, (1994). FacioScapuloHumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology 44(3 Pt1):442-6.
    Weiffenbach B, Dubois J, Manning S, Ma NS, Schutte BC, Winokur ST, Altherr MR, Jacobsen SJ, Stanton VP Jr., Yokoyama K, et al, (1994). YAC contigs for 4q35 in the region of the facioscapulohumeral muscular dystrophy (FSHD) gene. Genomics 19(3):532-41.
    Wijmenga C, van Deutekom JC, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR, (1994). Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics 19(1):21-6.
    Masuda Y, Hayashi M, Obara H, (1994). [Sevoflurane anesthesia for a patient with facioscapulohumeral muscle dystrophy] Masui 43(4):580-3 (Published in Japanese).
    Lunt PW, (1994) Report of the sixth International Workshop on FacioScapuloHumeral Muscular Dystrophy: San Francisco, 11 November 1992; and current guidelines for clinical application of DNA rearrangements at locus D4S810. Muscular Dystrophy Group of America. Neuromuscul Disord 4(1):83-6.
    Deidda GC, Cacurri S, La Cesa I, Scoppetta C, Felicetti L, (1994). 4q35 molecular probes for the diagnosis and genetic counseling of facioscapulohumeral muscular dystrophy [letter] Ann Neurol 36(1):117-8.
    Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, et al, (1994). The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res 2(3):225-34.
    Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C, van Deutekom JCT, Francis F, Sharpe PT, Hofker M, Frants RR, and Williamson R, (1994). Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3(8) 1287-1295.
    Bengtsson U, Altherr MR, Wasmuth JJ, Winokur ST, (1994). High resolution fruorescence In Situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Hum Mol Genet 3(11) 1801-1806.

    Support Groups


    FSHD Groups Welcome New Members
    The New England FSHD Support Group, the Mid Atlantic FSHD Support Group and the New York FSHD Support Group are currently the only groups in the United States offering the unique opportunity to meet others and share information and support on FSHD issues. Meetings are generally held every other month on Sunday afternoons covering topics specific to FSHD. Groups meet in accessible locations.The groups are fortunate to have leading researchers and clinicians available to present the current genetic and clinical information. Experts address nutrition, exercise and coping strategies specific to FSHD. Individuals, family members and professionals concerned with FSHD are welcome to attend.
    Since 1989, Carol Perez has facilitated the New England FSHD Support Group. The New England group covers Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island and Vermont, and meets in Woburn, MA.
    Since 1990, Karen Johnsen has led the Mid Atlantic FSHD Support Group in Bowie, MD. The Mid Atlantic group includes Maryland, Virginia, Washington, DC, Delaware and Pennsylvania. New members are always welcome to join the group and participate in these informational meetings.
    With pleasure, we announce the formation of the New York FSHD Support Group. The New York group began meeting in September, 1994, with members coming from New York, New Jersey and Connecticut. They welcome anyone who wishes to attend from any area. Under the leadership of Marilyn Meisel, they meet in Queens, New York. Marilyn Meisel is a member of the family that founded the Muscular Dystrophy Association and brings an interesting historical perspective to our organization.
    The Pennsylvania FSHD Support Group will begin meeting soon under the leadership of Renae Beeker. Renae welcomes your calls and invites you to join her in planning a schedule of meetings and agendas.
    If you have any questions about the Groups, please feel free to contact the following:

    Mid Atlantic FSHD Support Group:
    Karen Johnsen
    12203 Foxhill Lane
    Bowie, MD 20715
    Phone: (301) 262-0701.
    The group is finishing a compilation of less well documented symptoms to aid physicians with earlier and easier diagnosis and treatment of FSHD. Contact Karen Johnsen for a schedule of meetings.

    New England FSHD Support Group:
    Carol A. Perez

    3 Westwood Road
    Lexington, MA 02420
    Phone: (617) 860-0501
    Group meeting dates are December 4, 1994, February 12, 1995, April 2, 1995 and June 4, 1995, at the Days Inn, 19 Commerce Way, Woburn, MA from 1 to 3:30 p.m.
    At the October 1994 meeting, Connie Roberts, Manager of Nutrition Services at Brigham and Women's Hospital, Boston, presented a program on nutrition and FSHD.

    New York FSHD Support Group:
    Marilyn Meisel
    Fresh Meadows, New York
    Phone: (718) 357-5079
    The group met on November 13, 1994, to plan a schedule and agenda. Call Marilyn Meisel for future dates.
    At the September meeting, Carol A. Perez, Coordinator, FSH Society, participated to provide information and updates on FSHD issues.
    Pennsylvania FSHD Support Group:
    Renae Beeker
    Hanover, PA
    Phone: (717) 632-4803
    Call Renae Beeker for meeting date and location.

    Note:
    Please call Carol Perez, FSH Society Executive Director, East Coast Office, (617) 860-0501, with any questions or interest in forming local groups for FSHD as well as a network for Infantile FacioScapuloHumeral Muscular Dystrophy (IFSHD). To preserve confidentiality, the FSH Society will contact members and inform them of groups in their areas. We have requests to form groups in San Diego, San Francisco and Los Angeles, CA; Denver, CO; New Orleans, LA; Kansas City, MO and to set up a network for IFSHD. Information about support groups and networks is published in the FSH Watch.


    Network for IFSHD (Infantile FacioScapuloHumeral Muscular Dystrophy)
    The Society wishes to form a national network for individuals and families concerned with Infantile FacioScapuloHumeral Muscular Dystrophy. We have had many requests for a network to address the specific concerns and needs of IFSHD. Please call Carol A. Perez at (617)860-0501 or write to the FSH Society at 3 Westwood Road, Lexington, MA 02420, for information if you wish to participate in a telephone network and/or pen pal group.

    International FSHD Group Updates
    As of this edition, the FSH Society has links to FSHD Groups in England, France and the Netherlands. The Coordinators for these groups and updates on their activities are listed below. The French and Dutch Coordinators are fluent in English.

    England:
    Mr. Robin Brown
    FSHMD Support Group
    1 Hobart Close
    Whetstone
    London
    N20 OTT
    England
    Phone: 081 361 0089
    Update: This group has a brochure, Twenty Questions, about FSHD by Dr. Peter Lunt. The FSH Society has permission to copy and distribute this pamphlet. To receive a copy, please send a self addressed stamped envelope with your request to the East Coast Office of the FSH Society.

    France:
    Ms. Catherine Rouslin
    16, Rue du Parc Royal
    75003 Paris, France
    Phone: (H) 42744574
    (W) 40465102
    Update: This group is establishing a cell bank and FSHD study as well as completing a survey of medical and health issues of individuals with FSHD in France.

    Netherlands:
    Mr. Albert Gielis
    C. Beerninckstraat 102
    3641 DE Mijdrecht
    Netherlands
    Phone: (H) 31 2979 83530
    Update: The Netherlands group has published a profile on FSHD in Dutch. Presently, the group is assessing its structure and organization to better respond to the needs of individuals with FSHD.
    Letter from the FacioScapuloHumeral Society, Inc. to the
    International Symposium on FSHD held at Kyoto on July 10, 1994

    FSH Society Addresses Kyoto Symposium


    The FacioScapuloHumeral Society, Inc. (FSH Society) would like to congratulate Kiichi Arahata, M.D., Theodore Munsat, M.D. and their colleagues on developing an impressive program and symposium on the Clinical and Molecular Genetic Aspects of FacioScapuloHumeral Muscular Dystrophy. Especially noteworthy is the relevance of the material being presented, and the international character of the symposium.
    The FSH Society has the greatest respect and admiration for the researchers and clinicians involved with FSHD, and realizes the professional and personal implications of such an undertaking and that it is an arduous journey. Living with FSHD is also a long, hard journey. The FSH Society offers the members of the international community working on FSHD its cooperation and access to its international network. FSH Muscular Dystrophy is a disease with no ego and no formidable competition unless we all work together by sharing and cooperating whenever and wherever possible.
    The FSH Society is the only organization whose sole purpose is to serve the FSHD community. Its international networking has brought together more than eight hundred families committed to working together. Created because of the need for a comprehensive resource for FSHD individuals and families, the purposes of the organization are:
    1. to create a clearinghouse for information on the FSHD disorder, and drugs and devices for the treatment of same, and to foster communication among individuals, families, caregivers, charitable organizations, government agencies, industry, scientific researchers, academic institutions, and interested individuals;
    2. to accumulate and disseminate information about FSHD;
    3. to encourage and promote increased scientific and clinical research and development on the causes, alleviation of suffering and the cure of FSHD, including without limitation, the promotion of research and development for the treatment of FSHD for which funding may not otherwise be generally available;
    4. to solicit grants and contributions from private foundations, the pharmaceutical industry and others to support such research and development;
    5. to make grants and awards to qualified applicants so that such applicants may accomplish such research and development;
    6. to act as a liaison among consumers, and government and industry concerning research and development with respect to drugs and devices for FSHD;
    7. to represent individuals and families with FSHD not otherwise represented by effective organizations, and to work cooperatively and collegially with related organizations, including but not limited to the Muscular Dystrophy Association and the National Organization of Rare Disorders; and
    8. to educate the general public, relevant governmental bodies, and the medical profession about the existence, diagnosis and treatment of the FSHD disorder, a disease for which funding for research and development concerning diagnosis and treatment may not be generally available.
    The Society invites contact from any interested individuals, families, physicians, caregivers, charitable organizations, government agencies, industry, scientific researchers and academic institutions.
    Individuals who have FSHD are life long survivors of the severe trauma and tension of FSHD. They cope with the continuing, unrelenting and unending loss caused by FSHD from the first second, into the first minute, hour, day, week, over the months and through the years. Not for a moment is there a reprieve from continual loss of physical ability; not for a moment is there a time to mourn; not for a moment is there relief from the physical and mental pain that is a result of this disease. They wake up every morning to the reality that there is no known treatment and no known cause for this disease.
    FSHD insidiously and systematically deprives a person of childhood, adolescence, and the full range of choices in life. FSHD affects the way you walk, the way you dress, the way you work, the way you wash, the way you sleep, the way you relate, the way you parent, the way you love, the way and where you live and the way people perceive and treat you. You cannot smile, hold a baby in your arms, close your eyes to sleep, run or walk on the beach, or climb stairs. Every day brings the awareness of the things one may not be able to do tomorrow. This is the reality for the tens of thousands of people living with FSHD.
    The FSH Society gratefully acknowledges the importance of this symposium and the opportunity to offer its resources to you. The FSH Society joins in this process to enhance your endeavors and provide the patient perspective as well as its network with individuals and families.
    The FSH Society wishes to especially acknowledge Kiichi Arahata, M.D. for inviting our participation and Theodore Munsat, M.D. who accepted the responsibility of representing the FSH Society at this Symposium.
    --Daniel P. Perez, President, FSH Society


    Attention Members!

    We are looking for members who would be willing to contact congressmen when issues relating to the National Coalition for Research in Neurological Disorders (NCR) come up before the various committees. If you would like to receive information from NCR, please contact the FSH Society at 3 Westwood Road, Lexington, MA 02420. The FSH Society is a member of NCR.

    Senate Appropriations Committee
    Subcommittee on Labor, Health and Human Services, Education

    Representative
    Party
    State
    DC Phone
    Tom Harkin, Chairman
    D
    Iowa
    202-224-3254
    Christopher S. Bond
    R
    Missouri
    202-224-5721
    Dale Bumpers
    D
    Arkansas
    202-224-4843
    Robert C. Byrd
    D
    West Virginia
    202-224-3954
    Thad Cochran
    R
    Mississippi
    202-224-5054
    Slade Gorton
    R
    Washington
    202-224-3441
    Mark O. Hatfield
    R
    Oregon
    202-224-3753
    Ernest F. Hollings
    D
    South Carolina
    202-224-6121
    Daniel K. Inouye
    D
    Hawaii
    202-224-3934
    Herbert Kohl
    D
    Wisconsin
    202-224-5653
    Connie Mack
    R
    Florida
    202-224-5274
    Patty Murray
    D
    Washington
    202-224-2621
    Harry Reid
    D
    Nevada
    202-224-3542
    Arlen Specter, Ranking
    R
    Pennsylvania
    202-224-4254
    Ted Stevens
    R
    Alaska
    202-224-3004


    House of Representatives Appropriations Committee
    Subcommittee on Labor, Health and Human Services, Education

    Representative
    Party
    District
    State
    DC Phone
    Neal Smith, Chairman
    D
    4
    Iowa
    202-225-4426
    Helen Delich Bentley
    R
    2
    Maryland
    202-225-3061
    Henry Bonilla
    R
    23
    Texas
    202-225-4511
    Rosa L. DeLauro
    D
    3
    Connecticut
    202-225-3661
    Steny H. Hoyer
    D
    5
    Maryland
    202-225-4131
    David R. Obey
    D
    7
    Wisconsin
    202-225-3665
    Nancy Pelosi
    D
    8
    California
    202-225-4965
    John E. Porter, Ranking
    R
    10
    Illinois
    202-225-4835
    Jose E. Serrano
    D
    16
    New York
    202-225-4361
    Louis Stokes
    D
    11
    Ohio
    202-225-7032
    C.W. Bill Young
    R
    10
    Florida
    202-225-5961

    Editor's Note: As of November 8, 1994, the information presented here is subject to change. We will not know the composition of these subcommittees until January, 1995. Nonetheless, please contact the FSH Society if you are interested in contacting congressmen even though your state may not be represented.

    Fowler Receives Krusen Award


    William M. Fowler, Jr., M.D., received the Frank H. Krusen Award of the American Academy of Physical Medicine and Rehabilitation (AAPM&R) at the AAPM&R's 56th Annual Assembly.
    The AAPM&R's president from 1980 to 1981, Dr. Fowler is Professor Emeritus in the Department of PM&R at the University of California, Davis, Recalled (part time). The Founding Chairman of the Department of PM&R, School of Medicine, University of California, Davis, Dr. Fowler served in this capacity from 1968 to 1982. An internationally renowned researcher, he has contributed greatly to the specialty's understanding of neuromuscular disease. Since 1983, Dr. Fowler has been Director of a Research and Training Center funded by a grant from the National Institute on Disability and Rehabilitation Research to study comprehensive rehabilitation management of neuromuscular diseases.
    Established by the AAPM&R in 1972, the Krusen Award honors a founding father of the Academy who was a leader in the development of the specialty. Recipients of the gold medal are selected on the basis of their outstanding contributions to the field of PM&R in the areas of patient care, research, education, literary contributions, community service, and involvement in the many activities of the Academy.