The FSH Society successfully launched its 1995 Washington agenda on March 28 with the submission of written testimonies to the U.S. House of Representatives Appropriations Committee, Senate Appropriations Committee, Subcommittee on Labor, Health and Human Services, Education and Related Agencies which sets the funding for biomedical research.

The House testimony was submitted to the House Subcommittee by Representative Edward J. Markey (D-MA). In his letter to John E. Porter (R-IL), Chairman of the Subcommittee on Labor, HHS and Education, Congressman Markey asked that the subcommittee give "careful and thoughtful consideration " to this "important issue" as it developed its fiscal year 1996 appropriations bill.

The FSH Society submitted the Senate testimony directly. Information for the testimony was, in part, provided by Congressman Markey's office. Information on FSHD research needs was provided by the FSH Society Scientific Advisory Board. The following written testimony was submitted to the House and Senate Subcommittees. The contents have been edited for space limitations.

________________

Mr. Chairman, it is a great pleasure to submit this testimony to you today.

My name is Daniel Paul Perez, of Lexington, Massachusetts and I am testifying today as President of the FacioScapuloHumeral Society and as an individual who has this rare disorder.

The Need for NIH Funding For FSHD

My testimony is about the profound and devastating effects of a disease known as FacioScapuloHumeral Disease which is also known as FSH Muscular Dystrophy or FSHD, and the urgent need for NIH funding for research on this disorder. According to our research, only a small amount of work is going on in either the National Institute of Neurological Disorders and Stroke (NINDS) or the National Institute of Arthritis, MusculoSkeletal and Skin Disease (NIAMS). Currently, the level of funding from NINDS and NIAMS for FSHD research is approximately four hundred and twenty-five thousand dollars per year or seventeen dollars per person with FSHD.

In 1994, I submitted testimony before both House and Senate Appropriations Committees' subcommittees on Labor, Health and Human Services and Education and Related Agencies which stated that NIH and Congress could help bring about a significant research and scientific opportunity which would benefit tens of thousands of people worldwide with modest investments.

More than one year later, I re-appear before Congress older, wiser and having better perspective. Once again, I am asking the Congress of the United States of America to consider the value and merit in supporting FSHD research. As President of the FSH Society and as the chief activist for the tens of thousands of individuals living with FSHD in the United States and worldwide, I will continue to testify year after year arguing the case of wanting to live life free from disease.

FSHD is a series of errors. The defect in the gene is the first error; the protein for which it encodes is the second, and this primary error is repeated without end. This primary error is the lowest common denominator of the FSHD community. The people living with and involved with FSHD all their lifetime deal with resolving the copious manifestations of this first error. Our lives are a testament to the fact that from this primary error, more complex errors will arise, and that there is no end to the error leading to complexity, and complexity leading to further progression of this debilitating disease and constant loss of physical ability.

The race to find the gene is an enormous undertaking which traces backward through this series of errors to the starting point. It is a complex race with high expectations and rewards. It is a race in which intellects and creative minds strive to win despite operating on severely reduced research budgets. It is a race that America could win within the next two years if it does not make the error of oversight, omission or of apathy. America could make significant gains in understanding the mechanism of the FSH neuromuscular disorder by investing in new methods and techniques of research. America should realize that now is the time to stop the cascading series of errors. Now is the time to understand the complexity of the situation and, in turn, respond by funding new FSHD research programs.

The United States of America should not miss this tremendous opportunity that would allow the current generation of people with neuromuscular disorders and their future generations to live life free from disease. The FSHD community has been caught in this never ending circle of error leading to complexity and complexity leading to constant loss of skeletal muscle and functioning. Time is of the essence here. Lives are in the balance and the race against this disease is ongoing. The FSHD community believes that now is the time to move to action and it demands bold and persistent experimentation.

Today, I am asking Congress to communicate to the Public Health Service and National Institutes of Health the need for research funding on the FSHD disorder at a level of $3,000,000 annually.

Living with FSHD

The prognosis of FSHD includes both a loss of muscular strength that limits personal and occupational activities, and a total loss of mobility in perhaps twenty percent of the cases. Hearing loss and retinal abnormalities have been associated with FSHD.

In fact, I was born to a family that already experienced the extraordinary difficulty of receiving a proper diagnosis for FSHD. In the first few years of my life, I had been diagnosed as having FSHD and a severe hearing loss, which in the past four years I have come to find out is part of FSHD.

At 32 years of age, I consider myself a life long survivor of the severe trauma and tension of FSHD, and I do not say this lightly. I have dealt 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 my physical ability; not for a moment is there a time for me to mourn; not for a moment is there relief from the physical and mental pain that is a result of this disease. There is no known treatment and no known cause for this disease.

FSHD has insidiously and systematically deprived me of my childhood, my 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. I cannot smile; I can no longer hold a baby in my arms; I cannot close my eyes to sleep; I can no longer run or walk on the beach or climb stairs. Every day I am aware of the things that I may not be able to do tomorrow. This is the reality for the ten to twenty-five thousand people living with FSHD in the United States.

The men, women and children who live with the daily consequences of this devastating disease are your friends, neighbors, fellow taxpayers and contributors to the American way of life. With an historical 88% employment rate and an average educational achievement level of 14 years (source: Impairment and Disability Profiles on Neuromuscular Diseases: FacioScapuloHumeral Muscular Dystrophy, Research and Training Center on Neuromuscular Disease, Department of Physical Medicine & Rehabilitation, University of California, Davis and The National Institute on Disability & Rehabilitation Research, 1994), we personally bear our burden of the health care costs and training expenses to prepare for and maintain financial and personal independence.

With quiet dignity, we live our lives as productively as possible with FSHD.

Current Funding Sources for FSHD Research

Although FSHD research has benefited from NIH funding of the genome research, direct funding of FSHD research by NIH has been minimal. The National Institute of Neurological Disorders and Stroke (NINDS) has two (2) projects that deal directly with FSHD titled: "Identification of the FacioScapuloHumeral Dystrophy Gene" and "Center for Genetic Studies in Neurological Disorders." The National Institute of Arthritis, MusculoSkeletal and Skin Disease (NIAMS) has one (1) project that deals directly with FSHD titled: "Cloning the Gene responsible for FSH Muscular Dystrophy."

The total NIH funding for directly titled FSHD research for the fiscal year 1995 (FY95) is approximately four hundred and twenty-five thousand dollars ($425,000) or $17 per affected person.

FSH Muscular Dystrophy has a prevalence of 5-10/100,000 persons and has received $425,000 or $17 per affected person from NIH funding sources in the fiscal year 1995 to date. ALS, also known as Lou Gehrig's disease, has a prevalence of 1-2/100,000 persons and received $10,104,000 or $1,943 per affected person from NIH funding sources in fiscal year 1994. Charcot-Marie-Tooth (Type 1, 2, 3) has a prevalence of 1/15,000 persons and received $1,212,000 or $70 per affected person from NIH funding sources in the fiscal year 1994. Even though FSHD has a greater prevalence in the population than either ALS or CMT, it receives significantly less from NIH funding sources.

Mr. Chairman, presently there is very modest funding of FSHD from NIH--perhaps four hundred and twenty-five thousand dollars. I re-iterate, this is clearly insufficient given the recent advances and the high likelihood of making significant progress in the very near future.

FSHD Research Needs

As stated above, the FSHD community is a very high functioning population, does not demand much from our overall national budget and, in some cases, is too proud to ask for help. The FSHD community appeals to the Congress of the United States of America to take action on the one item that this community cannot do for itself--fund research on FSHD. We are asking today for a contract with people living with FSHD which commits to funding FSHD research in the following areas:

1.Cloning the gene, characterizing the nature of mutations in the gene.

2.Launching a major effort to understand the normal function of the FSHD gene and how its alteration causes the disease.

3.Conducting natural history studies to provide a baseline for future therapeutic techniques.

4.Developing therapies based on information in 1, 2, and 3.

Conclusion

We appeal to you today to take our hard-earned tax dollars commensurate with our numbers and valuable contributions to American Society. We urge the United States government to allocate a proportion of our tax burden in the amount of one hundred and twenty dollars ($120) per person per year living with FSHD. The current amount of seventeen dollars ($17) per person per year living with FSHD is unacceptable. We ask for an overall research budget of three million dollars.

This is the United States of America, and in a country as great as ours with all of its technical means and ability it should be absolutely clear, if not completely black and white, that the number one priority for individuals with FSHD and the one absolutely commanding imperative for the Federal Government is to initiate and accelerate in any way possible, research on FSHD. With modest funding and a clear direction from Congress to the NIH to support research at an annualized level of three million dollars ($3,000,000), significant progress can be made in conquering and eliminating this and other devastating diseases.

Mr. Chairman, again, thank you for providing this opportunity to testify before your subcommittee.

Last September, I left my lab at the University of California, San Francisco, and came to Washington, D.C. as the new Director of the National Institute of Neurological Disorders and Stroke (NINDS). I came to the NIH because I believe that this is a time of special promise for research on the brain and its disorders. Our understanding of the brain has grown dramatically during the past decade; during the next decade, we have the potential of translating scientific advances into new therapies for neurological disease, offering hope to thousands of Americans. Now is a time of unprecedented excitement in the field of brain and muscle research.

The excitement of the neurological research community is tempered, however, by realities of the Federal budget--a problem highlighted in the previous issue of FSH Watch. For the last seven years, the budgets for both the NINDS and for the NIH have essentially been flat when adjusted for inflation. In spite of broad public support for biomedical research, Federal expenditures in this area have not increased.

How can we accommodate the growth in neuroscience research with flat budgets? First of all, we can make sure that the money we do have is well spent. As a new Director, I am evaluating all of our research programs to be sure that only those of the highest quality and greatest importance currently get funded.

Second, we can work with other institutes to promote brain research. As brain research on the nervous system has increased, more and more institutes have increased their spending in this area. At least nine of the seventeen NIH Institutes now spend more than 20 percent of their budgets on brain and muscle research. Research on FSH, for example, is funded not only by our institute, but also by several other institutes and centers at the NIH. As I have met with other institute directors, I have found all to be eager to work together to promote research on brain and muscle disorders, including FSH.

We now have a new Congress, with many members who are representing their constituents in Washington for the first time. We need to work together to make clear to them, and to the American public, the importance of the work that we do, and the magnitude of the opportunities that await us. I look forward to working with the FSH Society and with other patient organizations to increase public understanding of how progress in science and medicine is achieved.

--Zach W. Hall, Ph.D., Director,

National Institute of Neurological Disorders and Stroke (NINDS)

"Though much is taken, much abides; and though
We are not now that strength which in old days
Moved earth and heaven, that which we are, we are;
One equal temper of heroic hearts,
Made weak by time and fate, but strong in will
To strive, to seek, to find, and not to yield."
--Ulysees, Alfred, Lord Tennyson

I have always admired the power and strength of this passage in Alfred, Lord Tennyson's Ulysees. His fond memories of past voyages and strong consideration of future voyages empowers us, his audience, to have the hope that there are more exciting discoveries to be made and much is yet to be done.

The FSHD community has one equal temper with many heroic hearts. This is seen in the recent developments in the national support group and international support group networks. Groups nationally and internationally face the exact same issues, and become more tempered as they continue to fight to make FSHD a priority for all institutions covering FSHD research. What is so striking is the concurrence and similarity of events taking place in the community responsible for FSHD research.

FSHD individuals repeatedly find themselves near the bottom of priorities for institutions involved with supporting FSHD research. It happens regardless of the country, politics and medical systems. Why? I feel that to the outsider, FSHD is perceived to be less severe, non-fatal and, at worst, a nuisance with which to live. To the insider, we know otherwise through shared experience.

As a result, we have set up an Internet bulletin board to allow access for the international and national community involved with FSHD. Lastly, the FSHD networks have many, many heroic and inspirational people and stories to share. Don Burke of Alice Springs, Australia is profiled in this issue. I met Don in 1992 at our first FSHD work group in Del Mar, California, and was impressed with his zest for life and adventure. I hope you will enjoy meeting Don as much as I have.

The FSHD community is strong in will. As of March 29, 1995, we have successfully introduced written testimonies for the U.S. House of Representatives, Appropriations Committee, Subcommittee on Labor Health and Human Services, Education and Related Agencies, and the U.S. Senate Appropriations Subcommittee on Labor, Health and Human Services, Education and Related Agencies regarding fiscal year 1996 Appropriation for the National Institutes of Health. We are asking for a level of support of $3,000,000 annually. The current level is $425,000 annually which is seventeen dollars per person with FSHD. This should make it absolutely clear why it is imperative for each and every one of you to contact one or more of the Congressmen on the appropriations Subcommittees listed in this issue, or your own Congressmen on the issue of increasing overall NIH and FSHD research funding. The two go hand-in-hand. Without support for the overall NIH budget, FSHD research will have a much harder time making gains.

We are honored to have Dr. Zach Hall, Director, National Institute of Neurological Disorders and Stroke (NINDS) at NIH give us his thoughts, in this issue, on the overall NIH budget and NIH support for FSHD research. We are pleased with the multi-institute initiative as there is much opportunity for FSHD research in the institutes involved with hearing, child health, vision, epidemiology, muscle and neurology. I am encouraged that NIH is genuinely concerned about FSHD.

The FSHD community strives to assemble the finest team of experts involved with FSHD research. We are extraordinarily pleased to announce the addition to our Scientific Advisory Board of three talented and dedicated professionals in the field of FSHD research. They are Dr. Michael Altherr, Dr. Robert "Birch" Griggs and Dr. Barbara Weiffenbach. The FSHD Scientific Advisory Board chaired by Dr. Paul Schultz is truly one of the best teams assembled to address issues regarding neurological disorders and FSHD research issues. Additionally, Dr. Ted Munsat continues to work on an NIH conference grant for a joint FSH Society/NIH conference on FSHD research in late 1996. We request that people consider making a donation to the Research and Education Fund to support this conference.

The FSH Society seeks answers to FSHD issues. It also seeks an answer to why we are where we are and the reasons for being there. This involves raising awareness, educating and staying abreast of all the recent developments. It also means seeking information through hours of laborious research.

Our effort has clearly shown us that the current funding for FSHD is dwarfed by other neuromuscular disease. We are seeking a higher status in the ranking of the American medical system. The FSHD community, both individuals and professionals involved with FSHD, seeks to know the level of government and private support. It is important for us to ensure that the effort is increased continually, and to be alarmed when funding is reduced. Currently, FSHD funding has retrenched and it is absolutely vital for you to express concern to all agencies involved. It is up to you to make it happen.

What will we find? We have found that there are many receptive and considerate people who are concerned with and working on FSHD. We have also found that there is much that we can do together to help the researchers find clues and insights. It will be very important that we work together as we better define FSHD itself. The more information we find about ourselves, the sooner will we find the answer to FSHD. Look to the obvious: document your own family histories and make your research available to researchers working on FSHD. The better prepared you are, the faster research will go. What you find may give us the one valuable insight we need, and help us all to find the answer to FSHD.

Lastly, although it is easy to yield to the overwhelming problems associated with FSHD, do not. The FSHD community has yielded to numerous other agendas and priorities for too many decades. I will tell you that we are far behind, and have given up much precious time.

I hope you will hear the voice of Ulysees as you read through this third edition of the FSH Watch. Realize that there is little profit in being idle while FSHD does its work and takes its toll. Come my friends, support the FSH Society; get politically involved; help the research wherever possible, and realize that there are new discoveries to be made.

--Daniel Paul Perez, President

FacioScapuloHumeral Society

The FSH Society has launched into cyberspace. Our friends and colleagues at the University of California, Davis, Division of Physical Medicine and Rehabilitation have set up an electronic bulletin board for us that is accessible via the Internet.

For those of you unfamiliar with the Internet, it is a network of computers strung together much like the phone company. To get onto the Internet, you need an IBM compatible 386 or Macintosh with a modem (i.e. phone) and a service company to plug you in (just as with the phone company). Once you have made all the wiring connections, using the Internet is just like using a phone. If you know the person or place you are trying to reach, you simply type in the address and the electronics will do the rest. Access to the bulletin board can be made through either Telnet or the World Wide Web, which are essentially two different ways of routing your call. Telnet provides the easiest access and simply requires that you follow the directions of your local area service provider to Telnet to our address at medpmr.ucdavis.edu. This will, in essence, ring the computer at the other end of the line. To get the computer to answer, you must type bbs at the log-in prompt, and then fsh at both the user ID prompt, and the password prompt.

Reaching our computer through the World Wide Web (WWW) requires a direct Internet connection or a service which provides an Internet web browser. For users with a direct connection, a web browser like Netscape or Mosaic, will allow access to our page. The command to connect to a WWW page is usually Open Location or Open URL. After issuing this command, type in http://medpmr.ucdavis.edu. At the login prompt, type bbs and then fsh at both the user ID and password prompts.

Once you have gained access to the bulletin board, a menu will offer you several choices. There is a read only menu that contains information and news from the FSH Society. There is also a read/write bulletin board where you can read messages left by others or post your own message for others to read. The bulletin board will be monitored and inappropriate or misleading messages will be removed. There is also "chat", which allows you to carry on a live conversation with anyone in the world who is also in chat at the same time as you are. This may be very useful for support groups or individuals to hold meetings, and access to the "room" can be restricted or open.

Most computer services have Internet access or will shortly. Following is a list of national providers, services provided, and fees.

. Delphi Internet

There are also numerous local providers to which local computer shops can probably direct you. After giving the bulletin board a try, let us know what you think by leaving a message for the sysop (system operator). Use and enjoy!

--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

Davis, CA

Coming Events: May 6, 1995, Sixth Annual Neuromuscular Disease Family Education Conference, Veterans Memorial Auditorium, 203 East 14 Street, Davis, CA. For information, call (916) 752-2903.

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
Interest(s): Rehabilitation, Occupational and Clinical

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

Los Angeles, CA

Stanley F. Nelson
University of California
Room 3256
RNRC
710 Westwood Plaza
UCLA Medical School
Los Angeles, CA 90024
Interest(s): Molecular Genetics

Columbus, OH

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

Iowa City, IA

The primary focus of the lab at this point is on the refined mapping and further analysis of the myodystrophic mouse (myd), a possible animal model for FSHD. We have mapped the myd gene to an approximately 1.1cM interval of mouse chromosome 8. We have begun to identify yeast artificial chromosomes (YACs) across this interval. We are also working with our colleagues to identify the mouse homologues for any candidate genes they have identified in humans. Finally, we are continuing to work on sequencing the region of human chromosome 4 just proximal to the deleted repeats.

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

Rochester, NY

We are continuing to evaluate approximately 70 FSHD patients every six months as part of our natural history study using manual muscle testing, maximal voluntary isometric strength testing, functional testing, and laboratory test assessment. Some of our patients have now been followed for nearly four years. This study is a collaborative effort with our colleagues at the Ohio State University. We plan to submit 3-5 manuscripts for publication in the coming months describing our findings, and also what implications these findings have on the design and conduct of future therapeutic trials in FSHD.

In addition, we have just completed a 12-week pilot study of prednisone treatment in 10 FSHD patients. The results of this study will be presented at the meeting of the American Academy of Neurology in May. We will certainly keep you informed of further results and progress from these and future studies.

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

Boston, MA

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

Waltham, MA

Note:

Dr. Weiffenbach is looking for new participants in an ongoing research study on genetics of FSHD. Please call Dr. Weiffenbach at (617)893-5007 if you are interested in helping with this study.

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

Los Alamos, NM

What we have found is an interesting arrangement of the sequences located at the terminus of the long arm of chromosome 4 where the FSH gene is localized. This organization, along with work of our collaborators, has led us to propose a distinct molecular mechanism, based on alterations in chromosome structure, that could be responsible for this disease. While still pursuing more conventional approaches, we are currently considering a model system to test this hypothesis. While interesting from a scientific prospective, I continue to motivate those that work with me by the human cost of this problem. Our primary goal remains to understand the cause of FSH to guide potential therapeutic approaches to ameliorate the consequences of this defect.

Michael R. Altherr
Life Sciences
Group LS 2, M880
Los Alamos National Laboratory
Los Alamos, New Mexico 87545
Interest(s): Molecular genetics

Durham, NC

Note:
The Center for the Study of Inherited Disorders (CSINDS) at Duke University Medical Center is actively soliciting the cooperation of families for participation in ongoing research in FSH Muscular Dystrophy. The purpose of the study is to identify all chromosomal locations of the disease gene(s). Ideally, families would be composed of three or more living generations with multiple members in each generation and should not have participated with another institute in similar studies. Please call Jeffrey M. Stajich at (919)286-5679 for further information.

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

Sao Paulo, Brazil

Abstract of more recent work:
A gene responsible for FacioScapuloHumeral Muscular Dystrophy (FSHD) has been localized at 4q35. Subsequently, it was found that probe p13E-11 detects a polymorphic EcoRl fragment, usually > 28 kb, in normal individuals, whereas in sporadic and familial FSHD cases, an EcoRl fragment, usually < 28 kb, was found. Although these findings have been amply confirmed, several aspects are as yet either controversial or unsolved. In the present investigation, 34 Brazilian FSHD families were studied at the clinical and the molecular level for the following purposes: to assess the frequency of new mutations and their effect on estimates of biological fitness, to characterize FSHD-associated EcoRl fragments detected with probe p13E-11 in familial--as compared with isolated--FSHD cases, and to assess whether anticipation occurs in multigenerational families. Results from our study suggest that new mutations are apparently frequent for FSHD and may account for at least one-third of the cases, that somatic mosaicism may not be rare, that biological fitness appeared to be reduced in FSHD, ranging from 0.6 to 0.82 by different estimates, with no difference in sexes. Interestingly, the size of the new EcoRl fragment is apparently smaller in more severely affected isolated patients. Moreover, the age at onset of clinical signs, as well as the age at ascertainment, in patients from multigenerational families suggests that anticipation occurs for FSHD in the majority of the families.
See Bibliography, page 22 for complete reference

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

Bristol, England

Abstract of more recent work:
FacioScapuloHumeral Muscular Dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA fragment by probe p13E-11 (D4F104S1) established the diagnosis of new mutation FSHD in 27 of 31 sporadic cases. The clinical data for these certain new mutation cases were as follows: 13 boys, 14 girls; mean age of onset 6.8 years; significant leg weakness in 19/27 (70%) (8/27 (30%) used wheelchairs at a mean age of 17.7 years); high tone sensorineural deafness in 10/27; visual acuity and direct ophthalmoscopy were normal. Congenital facial diplegia and sensorineural deafness in three children suggest that infantile FSHD is not a genetically separate disorder from FSHD. Ascertainment bias may explain the difference in severity between this group and typical familial cases. Molecular analysis for FSHD should be considered in children with either congenital or early onset facial weakness or diplegia.
See Bibliography, page 22 for complete reference

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

Cardiff, England

Peter Harper
Meena Upadhyaya
Institute of Medical Genetics
University of Wales College of Medicine
Heath Park
Cardiff CF4 4XN
England
Interest(s): Molecular genetics

Manchester, 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

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

Jean-Claude Kaplan
Hopital Necker
Paris
France
Interest(s): Molecular genetics

Italy

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

Tokyo, Japan

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

Leiden, 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
Leiden University
Wassenaarseweg 72
2333 AL Leiden,
The Netherlands
*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

Nijmegen, 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

Marburg, West Germany

Manuela Koch
Institut for Humangenetic der Philipps-Universitat
Bahnhofstr. 7A
D-3550 Marburg
West Germany
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

It has been four-and-one-half years since the chromosomal localization of the FSHD gene was identified by researchers in Leiden. Two years ago, deletions associated with FSHD were reported by researchers in Leiden and London. These breakthroughs and others have considerably narrowed the region in which to search for the FSHD gene.

The FSHD gene is very near one end of chromosome 4 and near DNA that is tightly coiled and inactive. Because of its position, some researchers have proposed that the inactive DNA may affect the neighboring FSHD gene and turn it off. Similar turning on and off of genes has been seen when genes are moved around in experimental organisms such as mice and fruit flies.

The search for a disease gene is a long and laborious process. To put things in perspective, the gene for Huntington's disease was identified in 1993, ten years after linkage was found; the polycystic kidney disease gene was found in 1994, nine years after linkage was found; the cystic fibrosis gene was found in 1990, five years after linkage was found.

To date, no group has announced the identification of the FSHD gene, and FSHD researchers are rapidly developing new theories and lines of investigation as more information emanates from the search for the gene. It is our hope that the search for the FSHD gene will not be similar to that for the Huntington's gene which took ten years, but will be identified within the next several years.

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. Additional volunteers are still needed for the MGH study, and the study at Brigham & Women's should be concluding in the next several months. Dr. Robert Griggs, Dr. Rabi Tawil (University of Rochester); Dr. Jerry Mendell and Dr. John Kissel (Ohio State University) are pursuing natural history studies on FSHD as well as drug therapy trials. Both groups (UR and Ohio State) are expected to publish results of their work over the next several months and will be presenting research findings at the American Academy of Neurology meeting in May.

The 1995 FSHD research funding level to date is extremely difficult to measure and quantify given the number of different funding agencies, types of institutions involved and difficulty in determining financial allocations. The two major components of U.S. funding are from the National Institutes of Health, and the Muscular Dystrophy Association of America. The funding amount from the National Institutes of Health is approximately $425,000 for the fiscal year 1995 to date. Additionally, the funding amount from the Muscular Dystrophy Association was $633,076 for the fiscal year 1994. Complete figures for the fiscal year 1995 are not available at the present time. Other non-U.S. government and private funding amounts are not currently known.

The next FSHD meeting sponsored by the MDA will be held in conjunction with the 45th annual meeting of the American Society of Human Genetics in Minneapolis, MN, October 24-28, 1995.

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.

John E. Porter, Chairman, IL
Subcommittee on Labor, HHS, and Education
2373 RHOB, Washington, DC 20515
(202) 225-4835 (o) (202) 225-0157 (f)

C. W. Bill Young, FL
Subcommittee on Labor, HHS, and Education
2407 RHOB, Washington, DC 20515
(202) 225-5961 (o) (202) 225-9764 (f)

Henry Bonilla, TX
Subcommittee on Labor, HHS, and Education
1427 LHOB, Washington, DC 20515
(202) 225-4511 (o) (202) 225-2237 (f)

Ernest J. Istook, Jr.,OK
Subcommittee on Labor, HHS, and Education
119 CHOB, Washington, DC 20515
(202) 225-2132 (o) (202) 226-1463 (f)

Dan Miller, FL
Subcommittee on Labor, HHS, and Education
117 CHOB, Washington, DC 20515
(202) 225-5015 (o) (202) 226-0828 (f)

Jay Dickey, AR
Subcommittee on Labor, HHS, and Education
230 CHOB, Washington, DC 20515
(202) 225-3772 (o) (202) 225-1314 (f)

Frank D. Riggs, CA
Subcommittee on Labor, HHS, and Education
1714 LHOB, Washington, DC 20515
(202) 225-3311 (o) (202) 225-3403 (f)

Roger Wicker, MS
Subcommittee on Labor, HHS, and Education
206 CHOB, Washington, DC 20515
(202) 225-4306 (o) (202) 225-3549 (f)

David R. Obey, WI
Subcommittee on Labor, HHS, and Education
2462 RHOB, Washington, DC 20515
(202)225-3365 (o)

Louis Stokes, OH
Subcommittee on Labor, HHS, and Education
2365 RHOB, Washington, DC 20515
(202) 225-7032 (o) (202) 225-1339 (f)

Steny H. Hoyer, MD
Subcommittee on Labor, HHS, and Education
1705 LHOB, Washington, DC 20515
(202) 225-4131 (o) (202) 225-4300 (f)

Nancy Pelosi, CA
Subcommittee on Labor, HHS, and Education
2457 RHOB, Washington, DC 20515
(202) 225-4965 (o) (202) 225-8259 (f)


Nita M. Lowey, NY
Subcommittee on Labor, HHS, and Education
2421 RHOB, Washington, DC 20515
(202)225-6506 (o) (202)225-0546 (f)


Bob Livingston, LA
Subcommittee on Labor, HHS, and Education
2406 RHOB, Washington, DC 20515
(202 )225-3015 (o) (202) 225-0739 (f)

What kind of person lives on a yacht? From late 1990 to late 1992, at least one of those people was a 26-year-old man afflicted with FSHMD. I awoke one rainy Sunday morning, toward the end of 1990, in my yuppie apartment in Reston, Virginia, and said, "I can't stand this yuppie-ness, I'm going to go look at yachts." Two months later, I was living on the Chesapeake Bay in Maryland on a 38-foot motor yacht named "Kassie B II." I had never piloted anything larger than a 16-foot runabout, but that didn't stop me from moving directly to a boat the size of a semi-trailer and powered by two huge Chrysler 454 engines. I said to myself, "This is something I always wanted to do, and the problem of piloting a boat this large is nothing that a lot of education and practice can't fix." It was the best two years of my life!

I grew up in a suburb of Minneapolis, Minnesota. There are many occurrences of FSHMD in my family, with the first known case being my grandmother. I have known I have the disease since junior high when I had to endure a President's Fitness test and the ridicule that resulted when I could not do a single pull-up. My aunt was one of the first people in the country to have the surgery of scapula fusion, and as a result of her success, I have subsequently had both of my shoulders fused. Both were marvelous successes for me, and have greatly increased the usefulness of my arms, as well as my self-confidence.

In July, 1984, at age 19, I began a journey that only gets better by the day and has allowed me to travel the world, meet great and interesting people, and experience things I had only dreamed of. It is all because my parents wouldn't allow me to choose a college without first visiting Embry-Riddle Aeronautical University in Daytona Beach, Florida. At a great inconvenience to the family, we headed for Daytona where, after walking into the Administrative Office of the school (which was on an airport and under Turn 4 of the Daytona International Speedway), I was hooked on racing and have never looked back.

I spent the next five years getting a Computer Science degree that was related to Aeronautics, as well as working at the racetrack. For the last five years I've been an employee of the federal government, first in Washington, D.C. and most recently for the USAF in Alice Spring, Australia. (Yes, that is in the middle of a desert!)

A short quiz: What happens when a hot day, fierce competition, racing at the limit, and FSH meet? Me, Don Burke, the man who lives by the motto, "positive mental attitude gets you through anything," bawled his head off for an hour after realizing I had to give up something I loved very much. It did not take long, however, before the "Positive Mental Attitude" took over and left me thinking of ways to overcome this physical limitation. While I haven't been on a racetrack since, I know that should I desire to, creativity, will power, and technology will enable me to modify a vehicle in a way that will allow me to participate.

Since a major focus of my life has been 4-wheeling and adventure travel, in late 1993 I took steps to change employers so I would have the opportunity to move to Australia. I moved to Alice Springs in September, 1994, and on March 24, 1995, the dream of the "4WD Australian Adventure," will truly be here. I will be taking a month-long vacation to travel throughout the northeast corner of Australia. I plan to visit five specific areas that are some of the most remote and desolate places in the world. The trip will take me from Alice Springs in central Australia, through the Simpson Desert, to Cairns on the East Coast (home of the Great Barrier Reef), to Cape York on the far northeast corner of Australia, to Darwin, and back through the Tanami Desert.

The vast majority of this trip will be through desolate country that ranges from deserts to rain forests. Most of the roads are mere tracks in the sand. The rain forest will require river fording skills. Navigation, patience and skill will be needed to effectively complete this journey. It is generally considered an expensive undertaking to traverse even one of these tracks of land, let alone all five! Preparing for this has been a two year effort. I have had to modify and improve my vehicle, and train and educate myself so that such a trip is not only possible, but reasonably safe. The vehicles are outfitted with auxiliary fuel tanks, global positioning systems, recovery gear (if we get stuck to our bumpers in sand or mud), auxiliary water tanks, first-aid kits, and short- and long-distance communication gear. Human preparation includes navigation, radio, survival, and driving skills.

Slightly more preparation is needed for me to safely accomplish this trip since I am afflicted with FSHMD. It was imperative for me to find a travel companion I trusted to understand the limitations my body places on me. We will be taking two vehicles for added safety. Additionally, since there is a greater possibility that I would be unable to affect "in-the-field" repairs due to limited strength, I have taken steps to maintain communication with the outside world, no matter how far away from civilization I am. I have also begun the task of putting together a short list of people who might be willing to join me on such an unique adventure. The people on this list are those who have shown, over time, just how willing they are to assist me in accomplishing my dreams--irrelevant of FSH.

Snow skiing, racing, water skiing, bungi jumping, skydiving, sailing, traveling, rollerblading, hiking, 4-wheeling, living on a yacht, and an exciting professional career. These are obviously activities for "healthy" people, right? Wrong! These are all activities that I have participated in. No, I cannot do any of them as well as a "healthy" person, and everyday that goes by I have more and more difficulty doing them; everyday that goes by I cannot do something that I used to be able to do. However, as hard as it is, I accept this as being part of life. I refuse to let it matter to me and will not allow myself to harbor negative energy because of what I can no longer do. I enjoy myself and refuse not to try something because of my disease. I am a risk taker; why should I let this disease, which I have no control over, keep me from doing what I love?

We live in an age where technology, creativity, and willpower allows us to do almost anything we want. So. . . put your mind to it, fill it with positive energy and focus on turning your dreams into reality, and not on what you cannot do because of FSH.

--Don Burke

Washington Update

The Budget Committee in the House of Representatives has proposed cutting federal discretionary spending by $100 billion over five years. As part of this plan, funding for the National Institutes of Health (NIH) will be cut 5% for $2.5 billion over the five year period.

This proposal will go to the floor of the House of Representatives and then to the Senate. The final budget resolution does not go to the President for signature. Rather, it becomes a guideline to which the Appropriations Committees of Congress must adhere.

While a 5% cut may not sound like a great deal given all the talk about other budget cuts, it is very serious. It means, at a minimum, that any real growth in neurological research funding at NIH will be extremely unlikely. Second, the 5% cut could well be increased on the floor of the House or Senate to a far larger amount, resulting in disruption of ongoing research efforts.

It is critical that as many letters as possible be sent to all members of the House, both Republicans and Democrats, in support of (a) eliminating NIH from the House Budget Committee list of recommended cuts and (b) urging that the brain research budgets of the three major institutes--the National Institute on Neurological Disorders and Stroke (NINDS), the National Institute on Mental Health (NIMH) and the National Institute on Aging (NIA)--be increased by 10%.

The National Coalition for Research in Neurological Disorders (NCR), of which the FSH Society is a member, is calling on you to write or call the House and Senate Appropriations Committee members (information found on pages 12 and 13) urging them to fully fund the NIH.

--Morgan Downey, Executive Director,
The National Coalition for Research in Neurological Disorders

Update: The French FSHD group, established in 1992, represents 120 families. They established a cellbank under Professor Jean-Claude Kaplan, Hopital Necker, Paris, and completed a survey of medical and health issues for individuals with FSHD in France. Dr. Michel Fardeau met with members at a national meeting of the AFM (Association Francaise contre les Myopathies) in May, 1994. By October 1994, the FSHD group's telephone network had expanded to 44 members.

Responding to an FSH Watch, Fall 1994, article on scapular fixation, Ms. Lheureux-Rouslin and Mr. Mennetret inform us that 15% of the French FSHD group have had this surgical procedure. Two surgical teams perform this procedure in France; one uses metal fixation and the other uses flexible dacron. Transposing leg muscles is another procedure proposed in France.

Netherlands:
Mr. Albert Gielis (fluent in English)
International Contact FSHD working group
C. Beerninckstraat 102
3641 DE Mijdrecht
Netherlands
Phone: 31 2979 86126 (H)
Phone:31 2979 73774 (W)
FAX: 31 2979 83530
Update: In 1994, the VSN (Muscular Dystrophy Association Netherlands) published a brochure on FSHD that is available in an English translation. The Netherlands FSHD working group meets annually and publishes four newsletters. Thirteen members of the FSHD youth group held their annual meeting in Utrecht and visited a "revalidation" center (inpatient and outpatient rehabilitation facility). At the national FSHD contact day in September, Dr. W. I. M. Verhagen discussed disequlibrium and FSHD. Dr. G. Padberg, Nijmegen, informed members that the FSHD genetic research continues at Leiden and the clinical research Nijmegen. Dr. Padberg responded to FSHD members' concerns about exercise, protein-rich diets, prednisone and life insurance, as well as other issues.

In the VSN FSHD newsletter, Volume 10, Dr. G. Padberg's update on progress in FSHD research reports on genetic studies as well as a finding that audiometric tests demonstrated that two-thirds of FSHD patients have a hearing loss and one-half had slight protrusions of retinal blood vessels that seldom lead to complaints.

The New England FSH Support Group, the Mid Atlantic FSHD Support Group and the New York FSH Support Group are currently active in the United States and offer 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. The groups are fortunate to have leading researchers and clinicians 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. There are two groups now forming in Pennsylvania, the Philadelphia FSH Support Group, and the South Central Pennsylvania FSH Support Group.

*Groups meet in accessible locations.

Mid Atlantic FSHD Support Group:
Karen Johnsen
12203 Foxhill Lane
Bowie, MD 20715
301/262-0701

Meeting: Sunday, June 11, 1995, Dr. Cisca Wijmenga, Netherlands FSHD geneticist responsible for major progress in FSHD research, will be the guest speaker.

Karen Johnsen has led the Mid Atlantic FSHD Support Group that includes Maryland, Virginia, Washington, DC, Delaware and Pennsylvania since 1990. The group alternates presentations and open discussions. Their project, a compilation of less well-documented symptoms, to aid physicians with earlier and easier diagnosis and treatment of FSHD, is in the completion stages. Dr. C. James Duke, Rehabilitation Specialist from Holy Cross Hospital spoke on March 5. An open discussion was held in April.

New England FSHD Support Group:
Carol A. Perez
Lexington, MA 02420
617/860-0501

Meeting: June 4, 1995, with scheduled speaker, Barbara Odaka, PT, Clinical Supervisor, Brigham and Womens Hospital, will discuss physical therapy and FSHD at the Days Inn, 19 Commerce Way, Woburn, MA from 1:00 p.m. to 3:30 p.m.

Since 1989, Carol Perez has facilitated the New England FSHD Support Group that covers Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island and Vermont and meets in Woburn, MA. J. Archer O'Reilly, Information Center for Individuals with Disabilities, discussed advocacy roles in December, 1994. Barbara Weiffenbach, Ph.D., provided an update on genetic research in FSHD in February. In April, Steven Lewis, Ph.D., physiologist, Boston University Department of Health and Sciences, discussed muscle energy metabolism.

New York FSHD Support Group:
Marilyn Meisel
Fresh Meadows, NY
718/357-5079
Call Marilyn Meisel for June meeting date and location.

The New York FSHD Support Group members come from New York, New Jersey and Connecticut. Under the leadership of Marilyn Meisel, they meet in Queens, New York. On March 5, 1995 Alfred Spiro, M.D., neurologist, Albert Einstein College of Medicine, met with the group in March to discuss FSHD. Barbara Weiffenbach, Ph.D., FSHD genetic researcher, updated the group on current research in April.

South Central Pennsylvania
FSHD Support Group:
Ranae Beeker
Hanover, PA
717/632-4803
Call Ranae Beeker for meeting date and location.

The South Central Pennsylvania FSHD Support Group, coordinated by Ranae Beeker, plans a May meeting to develop a schedule and agenda to meet local needs of this part of Pennsylvania and surrounding areas. Ranae Beeker welcomes your participation. As a member of the Mid Atlantic Support Group, Ranae, a nurse, helped develop a list of less common symptoms by individuals with FSHD.

FSH Networks
n IFSHD (Infantile Facio-ScapuloHumeral Muscular Dystrophy) Networks
Mary Redick
W11149 County Rd. M
River Falls, WI 54022
715/425-5302

The Society announces the Network for IFSHD (for individuals and families concerned with Infantile FacioScapuloHumeral Muscular Dystrophy and early onset). Mary Redick, Network Coordinator, welcomes your phone calls and letters. We recognize the need to share the unique concerns and solutions by individuals, families and young children with early symptomology. This network has its first international member.

Colorado Duane Dotson, 303/426-9180
4140 West 74th Ave.
Westminster, CO 80030

Kansas & Richard Snow, 316/251-7663
Oklahoma 402 Cheyenne
Coffeyville, KS 67337

Please call Carol A. Perez, FSH Society Director, East Coast Office, 617/860-0501, with any questions or interest in forming a local group, telephone network or penpal group. To preserve confidentiality, the FSH Society will contact members and inform them of groups in their areas. We hae requests to form groups in San Diego, San Fransico and Los Angeles, CA; Denver, CO; New Orleans, LA; Kansas City, MO; and Rochester, NY. Information about support groups and networks is published in the FSH Watch.

Q: How is FSHD different from IFSHD?

A: FSHD is a slowly progressive muscular disorder due to inherited or spontaneous DNA rearrangements. In 1977, Dr. Brooke described an infantile (or early onset) form of FSHD. In these patients, facial weakness is noted in the first two years of life with progressive involvement of the shoulders, upper arms and foot extensors. The rate of progress of the muscle weakness is variable. Hearing loss and retinal abnormalities are present in some of these children. Infantile FSHD is rare, accounting for less than 5% of FSHD cases.

There may be more than one genetic origin for IFSHD and FSHD. It is anticipated that isolation and characterization of the FSHD gene will more fully clarify the relationship of IFSHD and FSHD. It may also add insight to the related question of why there is such a wide variation in expression of FSHD, even within the same family group.

--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.

Q: How does FSH syndrome differ from FSHD?

A: The designation FacioScapuloHumeral Dystrophy (FSHD) was the name given to this condition by Drs. Walton and Natrass when they divided the muscular dystrophies into different forms. The assumption was, at that time (1954), that FSH was a single disease and that it was one of the muscular dystrophies. Subsequently, it has become clear that both pathologically and by gene definition, FSH constitutes a group of different conditions presenting in a similar manner. Thus, the term FSH "syndrome" is being used more frequently to acknowledge the fact that there may be several causes. To confuse things further, some individuals have used the designation "FSH disease."

--Theodore L. Munsat, M.D., Neurologist, Director of the Neuromuscular Research Group and Department of Neurology, New England Medical Center, Boston, Massachusetts, is an FSH Society board member and serves on the Scientific Advisory Board of the FSH Society, Inc.

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.

Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M, (1994). De novo FacioScapuloHumeral Muscular Dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child 71(3):221-7.

Fitzsimons RB (1994). FacioScapuloHumeral dystrophy: the role of inflammation. Lancet 344(8927):902-3.

1995

Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R (1995). High proportion of new mutations and possible anticipation in Brazilian FacioScapuloHumeral Muscular Dystrophy families. Am J Hum Genet 56 (1):99-105.

As Executive Director of the FSH Society and a volunteer, I enjoy meeting you by phone, mail and in person. In the past six months, our horizons have expanded to Central America, the Indian Ocean, South America, Australia and Russia. Our network has grown as has our membership. With our entry into the superhighway (Internet), we are easier to access nationally and world-wide.

It is your energy, excitement and communication with other FSHD families and professionals that has propelled us forward into 1995 with a plan of action that will be achieved. This plan is based on your input and needs. Your valued information on new research, treatments and techniques help us to link families and professionals, and continue our goal of informing you. You become the advocates for the FSH community.

The successful growth of local support groups and phone networks in 1994 has lessened the sense of isolation and frustration many have experienced. Together, we have laughed and cried and moved into action.

Your response to the February 1995 survey was very helpful. We are planning a national meeting in 1996 and will plan sessions as you requested. We have your response to our Research and Education Fund. Your offers of help are gratefully accepted. If you missed the March 31 deadline, please return your surveys now. We will include late responses in the final report in the Fall, 1995, FSH Watch.

I welcome your calls, comments, and commitment to our mission of information, advocacy and encouraging research on FSHD. I urge you to join the FSH Society now for 1995. Our voluntary patient organization depends on your support.

--Carol A. Perez, M.Ed., C.R.C.

I am encouraged by the expansion of awareness of FSHD, understanding of its nature, and search for its etiology. The pages of this current newsletter are ample evidence of this progress in the U.S., Europe and Japan. As many of you know, the paucity of work on FSHD prior to the 1980s was a past concern for many. The secretary for the FSHD group in the Netherlands, Mr. Albert Gielis, has recently run across work done by Japanese researchers and clinicians more than 20 years ago that involved patients with FSHD. We hope to gain more information about this work, and we thank Mr. Gielis for sharing his discovery with us.

We are dedicated to keep the need for expanding FSHD research and therapy in full view of the research community and funding agencies. Thank you for the generosity of those of you who have helped the Society continue its efforts in 1995. For those of you who share this interest and who have not yet joined as members, please consider doing so.

The West Coast office has received several calls in response to the recent questionnaire regarding national meetings this year and in 1996. The feasibility of a membership gathering depends largely on interest and positive responses. Please take the time to send in your response so the Society can make appropriate plans. The West Coast Office remains available for assistance with your calls and inquiries.

--Stephen J. Jacobsen, Ph.D.