FSH Watch
Vol. 1 No. 1, Spring 1994
A publication of the FacioScapuloHumeral Society
Provided by the
FSH Society, Inc.
Inside ...
Perez Gives Testimony Before Congressional Committees
The FSH Society successfully launched its Washington agenda on February
1 with the testimony of FSH President Daniel Perez before the U.S. House of
Representatives Appropriations Committee, Subcommittee on Labor, Health and
Human Services, Education and Related Agencies which sets the funding for
biomedical research. In an eloquent statement, Mr. Perez described what it is
like to live with the FSH disorder. His testimony included a description of
FSH, a summary of current research and a description of achievable research
goals. This information was supplied by the newly formed FSH Society Scientific
Advisory Board, in particular Dr. Theodore Munsat and Dr. Paul Schultz.
Mr. Perez pointed out that NIH has funded very little research into FSH. Now,
with the genetic research moving ahead, he said it was time for NIH to
accelerate the research with a small portfolio of grants. William Natcher
(D-KY), Chairman of the subcommittee thanked Mr. Perez for his "fine
statement" and for taking the time to inform the committee of the
research that is needed.
The day before Mr. Perez testified he and Morgan Downey, General Counsel to the
FSH Society, met with Dr. Patricia Grady, Acting Director of the National
Institute of Neurological Disorders and Stroke (NINDS), Dr. Floyd J. Brinley,
Director of the Division of Convulsive, Developmental and Neuromuscular
Disorders, and Dr. Phillip Sheridan, Special Assistant to the Director of
NINDS. They discussed the role of the Neurology Institute and the current lack
of research going on in FSH. The officials of the Institute expressed interest
in meeting with FSH researchers to refine research needs and work with them to
improve the likelihood of their grants obtaining funding.
A second meeting was held with Dr. Richard W. Lymm, Director, Muscle Biology
Branch of the National Institute of Arthritis and Musculoskeletal and Skin
Diseases. Dr. Lymm expressed his interest in the FSH disorder and explained the
different emphases between the Arthritis Institute and the Neurology Institute.
Briefly, the Arthritis Institute would become involved in a research grant on
FSH if it focused on muscle metabolism. The Neurology Institute, on the other
hand, would take up research projects which would focus on central nervous
system involvement.
Representatives of both Institutes were extremely supportive of the
establishment of the FSH Society and had numerous suggestions for areas of
future cooperation. "This was the first time that a patient representing
FSH has talked to Congress and the National Institutes of Health about funding
more research," said Daniel Perez. "It was an exciting
opportunity but only one step. These institutions need constant pressure from
patients if they are to do more research," he concluded.
On March 3, Daniel Perez testified before the U.S. Senate Appropriations
Subcommittee on Labor, Health and Human Services, Education and Related
Agencies chaired by Tom Harkin (D-IA). Herbert Kohl (D-WI) thanked Mr. Perez
for his "excellent and moving testimony." This completes the
testimonies needed for the budget year 1995.
Following is the recorded transcript of that testimony:
"Mr. Chairman, it is a great pleasure to appear before you today.
"My name is Daniel Paul Perez of Lexington, Massachusetts and I am here
before you today as President of the Facioscapulohumeral Society and as an
individual who has this rare disorder.
"In the written testimony you will see that we have assembled a
prestigious national Scientific Advisory Board, comprised of the leading
researchers and medical professionals in the field of neuromuscular disorders.
Serving on our Scientific Advisory Board we have Dr. Theodore Munsat, who is
past president of the American Academy of Neurology, and Dr. Louis Kunkel and
Dr. Robert Brown who have cloned the genes for other major inherited
neuromuscular disorders.
"My testimony today 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 little, if any, work is going on in
either the National Institute of Neurological Disorders and Stroke or the
National Institute of Arthritis, Musculo-skelatal and Skin Diseases.
"The major consequence of inheriting this disease is that of 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 weakness
often provides a clue that FSH is present.
"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. The progression of FSH begins between the first and second decades of
life for men and between the second and third decades of life for women. Life
expectancy is normal in many, but many, if not most, patients become
significantly incapacitated in the prime of life. There is an infantile form of
FSH which is extremely severe and may result in an early death.
"The prognosis of FSH 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.
"I was born to a family that already experienced the extraordinary
difficulty of receiving a proper diagnosis for FSH. In the first few years of
my life I had been diagnosed as having FSH and a severe hearing loss which, in
the past three years, I have come to find out is part of FSH.
"At 31 years of age I consider myself a life long survivor of the severe
trauma and tension of FSH, and I do not say this lightly. I have dealt with the
continuing, unrelenting and unending loss caused by FSH 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.
"FSH has insidiously and systematically deprived me of my childhood, my
adolescence, and the full range of choices in life. FSH 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 can not smile, I can no
longer hold a baby in my arms, I can not 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 FSH.
"I sincerely hope that I will not have to live the rest of my days
managing my way through decline with this disease. This is the United States of
America, and in a country as great as ours with all of its technical means and
ability I should not be asked to sit idly by while this disease takes its
course.
"I reiterate that it is absolutely clear, if not completely black and
white, that the number one priority for individuals with FSH and the one
absolutely commanding imperative for the federal government is to initiate and
accelerate, in any way possible, research on FSH. With modest funding and a
clear direction from Congress to the NIH to support research, significant
progress can be made in conquering, and perhaps eliminating, this devastating
disease.
"Mr. Chairman, again, thank you for providing this opportunity to
testify before your subcommittee."
From the President
Nobel laureate Carlos Fuentes once said to me: "If you had left at
daybreak, you would have been there by now." I feel that the progress
made on FSH in the last forty years is deeply reflected in this statement. Paul
Cohen, an individual with FSH, set out at daybreak forty years ago when he
founded the Muscular Dystrophy Association of America. There is a deep sense of
irony in the fact that the FSH population has been one of the last to organize
and is one of the last of the dystrophies seeking recognition at the national
and international level.
Until 1987, no major genetic work was being conducted on FSH in the United
States. It was at this point that Stephen J. Jacobsen Ph.D.--another
individual with FSH--realized that numerous advances in research and
clinical medicine were being made in other neuromuscular disorders and no major
work could even begin without the formation of a genetic cell bank. In 1987,
Dr. Jacobsen set up the first FSH cell bank at the University of California,
San Diego. Again, another individual with FSH realized that the day was
progressing, the journey had been interrupted, and that there was a long way to
go before the FSH community could arrive at its final destination. These words
are an appropriate metaphor for the arrival of the FSH Society. The FSH
community had left at daybreak and although we should have arrived by now, the
day is progressing and we have a long way to go.
The FSH Society's origins are directly traceable to Dr.
Jacobsen's pioneering efforts to establish a national FSH cell bank
with funding from the Muscular Dystrophy Association. We are deeply in debt to
Dr. Jacobsen and the Muscular Dystrophy Association for their work and their
efforts to raise awareness of the FSH population. I feel very strongly that we
would not be here today if it were not for Dr. Jacobsen's work and
commitment to the FSH cause.
Dr. Jacobsen was the second person with FSH that I ever met. During my visit to
Dr. Jacobsen's lab in San Diego in 1989, I could not help but feel
that the FSH population had finally found a home. Our hope for a permanent home
is realized now with the formation of the FSH Society.
In 1990, I wrote the following objectives with the mindset that the FSH
population needed organization, representation and advocacy in all forums.
These objectives and purposes try to cover all of the necessary corporate
mechanics and legal means for achieving a better quality of life for those
involved with FSH. The FSH Society was created because of a need for a
comprehensive resource for FSH individuals and families. The purposes of the
organization are:
1. to create a clearinghouse for information on the FSH 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 FSH;
3. to encourage and promote increased scientific and clinical research and
development on the causes, alleviation of suffering and the cure of FSH,
including without limitation, the promotion of research and development for the
treatment of FSH 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 FSH;
7. to represent individuals and families with FSH 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 FSH
disorder, a disease for which funding for research and development concerning
diagnosis and treatment may not be generally available.
The FSH Society is a voluntary health organization created by individuals with
FSH for individuals involved with FSH. Our national Scientific Advisory Board
is comprised of the leading researchers and medical professionals in the field
of neuromuscular disorders. Serving on our Scientific Advisory Board we have
Dr. Theodore Munsat, who is past president of the American Academy of
Neurology, and Dr. Louis Kunkel and Dr. Robert Brown who have cloned the genes
for other major inherited neuromuscular disorders (Duchene, Becker and familial
ALS) and many other extremely talented individuals. In addition, the FSH
Society has retained the finest and most experienced legislative and legal
expert in the field of neurological disorders, R. Morgan Downey of Hoffheimer
& Downey. All Board members are serving as unpaid volunteers and we rely on
the contributions of time and money from all individuals.
The FSH Society is a membership organization and relies heavily if not solely
on the support of its members. In short, this is an opportunity to empower
yourself by being a concerned and active member in the Society. It is extremely
imperative that each individual realize that if we are to arrive at our
destination we must come together as a cohesive whole. Please do not be lulled
into a false sense of security by thinking that other people are taking care of
your problem. Lastly, please realize that this is a rare opportunity to take
control of what happens with FSH and please consider this opportunity very
seriously as the day is getting long and time is moving on.
--Daniel Paul Perez, President
Facioscapulohumeral Society, Inc.
FSH Society Statement
Facioscapulohumeral 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.
The FSH Society was created because of a need for a comprehensive resource for
FSHD individuals and families. Purposes of the organization are:
to encourage and promote scientific and clinical research and development
through education of the general public, government bodies and the medical
profession,
to support such research and development through solicitation of grants and
contributions from private foundations, the pharmaceutical industry and
others,
to accumulate and disseminate information about FSHD,
to actively cooperate with related organizations and foster communication
among all interested parties, and
to represent individuals and families with FSHD.
The Society invites contact from any interested individuals, families,
physicians, caregivers, charitable organizations, government agencies,
industry, scientific researchers and academic institutions. Any inquiries
regarding membership, charitable donations, purposes and goals or other issues
pertaining to the Society and FSHD, should be addressed to the east or west
coast offices.
Current Happenings in Research
Since the gene for FSHD was mapped to one end of chromosome 4, research groups
in the United States and Europe have worked to narrow the region in which the
gene maps to identify the FSHD disease causing gene. In the past two years,
several important findings have been published.
A group of researchers at Duke University led by Dr. Margaret Pericak-Vance
have found that more than one gene can cause FSHD. The Duke group reported that
they have several FSHD families where the gene for FSHD does not map to
chromosome 4. These researchers are currently searching for the chromosomal
location of this other FSHD gene. This finding has important implications for
families who would like pre-symptomatic or prenatal testing for FSHD. Since the
chromosome 4 gene for FSHD has not yet been identified, one would have to
determine whether the family has an alteration in the chromosome 4-linked FSHD
gene or another FSHD gene before one proceeds with testing. To determine
whether the disease maps to chromosome 4, participation of a large family is
necessary. At this time, no group is offering diagnostic testing for FSHD
families.
Researchers at the University of Iowa led by Dr. Kathy Mathews are interested
in mouse models for FSHD. This group is studying a mouse strain that has a
mutation resulting in symptoms that are similar to those seen in FSHD humans.
The mdx mouse, a strain with mouse Duchenne muscular dystrophy, has been
important in testing different therapies such as gene replacement and myoblast
transfer. Similarly, the identification of a mouse model for FSHD would speed
the study of therapies and therapeutics for this disease.
Although the FSHD gene that maps to chromosome 4 has not yet been identified,
the work of several groups has narrowed the location of the gene. Groups in
Leiden led by Dr. Rune Frants and in London led by Dr. Jane Hewitt have
detected rearrangements that are associated with FSHD. These arrangements are
seen in affected individuals and appear to be the result of a large deletion of
DNA. Whether these rearrangements are directly responsible for the disease is
unclear. Dr. Weiffenbach (Collaborative Research, Waltham, MA), Drs. Griggs and
Tawil (University of Rochester, N.Y.), and Dr. Meena Upadhyaya (University of
Cardiff, U.K.) have found affected individuals that do not contain the
rearrangements. However, it is clear that the discovery of the FSHD-associated
rearrangements is important and will lead to the discovery of the FSHD gene.
Several research groups are actively searching for the FSHD gene by identifying
and studying genes that map near the FSHD-associated rearrangements. They
include: Dr. Michael Altherr (Los Alamos National Laboratory), Dr. Denise
Figlewicz (University of Rochester), Dr. Rune Frants (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.), and Dr. Barbara Weiffenbach (Collaborative Research, Waltham, MA).
Rochester Research Update
The University of Rochester research project involving FSHD is now in its fifth
year of clinical study. Our accession of new families continues at a
comfortable rate. We have screened 69 families with 34 individuals being
followed in the Quantitative Natural History (QNH) phase of the study. We have
also tested 69 normal volunteers (NV) on the Quantitative Myometry (QMT)
system. The NV population includes family members and friends of individuals
affected with FSH and other neuromuscular diseases being studied at the
University of Rochester, and staff from the Department of Neurology.
We are now actively recruiting patients for the prednisone treatment trial.
Four persons have already been enrolled in the study. The prednisone trial is
no longer restricted to people outside the QNH study. Anyone interested in
participating in the prednisone study is urged to call Lynn Cos at (716)
275-2559.
Researchers
Los Alamos, NV
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.
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
Waltham, MA
Barbara Weiffenbach
Susan Manning
Richa Saxena
Collaborative Research, Inc.
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
Leiden, Netherlands
Nijmegen, Netherlands
O. F. Brouwer
Department of Neurology
University Hospital Leiden
P.O. Box 9600
2300 RC Leiden
The Netherlands
Rune R. Frantz
Nicole Datson
Cisca Wijmenga*
Institute for Anthropogenetica
Wassenaarseweg 72
2333 AL Leiden,
The Netherlands
George W.A.M. Padberg
University Hospital Nijmegen St Radboud
Department of Neurology
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
Marburg, West Germany
Manuela Koch
Institut for Humangenetic der Philipps-Universitat
Bahnhofstr. 7A
D-3550 Marburg
West Germany
Interest(s): Molecular genetics
Rochester, NY
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 genetic and clinical
Actively recruiting patients for a prednisone treatment trial. Contact Lynn Cos
at (716) 275-2559 if interested in participating in the prednisone study.
The University of Rochester research project involving Facioscapulohumeral
Muscular Dystrophy is now in its fifth year of study.
UR and Ohio State have jointly screened 69 families with 34 individuals being
followed in the Quantitative Natural History (QNH) phase of the study. UR has
also tested 69 normal volunteers (NV) on the Quantitative Myometry (QMT)
system.
UR has three sets of identical twins in its QNH study. In the two sets of
sisters, both are affected in each set. In the set of brothers only one is
affected.
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.
Manchester, England
London, England
Jane Hewitt
Laboratory of Human Molecular Genetics
Department of Cell and Structural Biology
Stopford Building
Manchester University
Oxford Road
Manchester M13 3PT
England
R. 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 Lunt
Peter Harper
Meena Upadhyaya
Institute of Medical Genetics
University of Wales College of Medicine
Heath Park
Cardiff CF4 4XN
England
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
San Francisco, CA
Robert Miller
University of California, San Francisco
3700 California Street
P.O. Box 3805
San Francisco, California 94119
Interest(s): Clinical
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
Interest(s): Molecular genetics
*Michael Altherr is currently with the Genomics and Structural Biology Group,
LANL, Los Alamos, NM
St. Petersburg, Russia
V.M. Kazakov
Address: Unknown at press time
Interest(s): Clinical
Davis, CA
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
Interest(s): Rehabilitation, Occupational and Clinical
The research is being conducted by the Research and Training Center on
Neuromuscular Disease and the National Institute on Disability &
Rehabilitation Research.
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
Italy
L. Felicetti
Intituto de Biologia Cellulare, CNR
Interest(s): Molecular genetics
Research Bibliography
1991 n n n
Padberg GW, Lunt PW, Koch M, Fardeau M, (1991). Diagnostic criteria for
facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1(4):231-4.
Molnar M, Dioszeghy P, Mechler F, (1991). Inflammatory changes in
facioscapulohumeral muscular dystrophy. Eur Arch Psychiatry Clin Neurosci
241(2):105-8.
Yamakage M, Iwasaki H, Kawana S, Ishima T, Namiki A, (1991). [A case report
of monitoring neuro-muscular blockade during anesthesia in a patient with
facioscapulohumeral muscle dystrophy]. Masui 40(1):105-8 (Published in
Japanese).
Slipetz DM, Aprille JR, Goodyer PR, Rozen R, (1991). Deficiency of complex
III of the mitochondrial respiratory chain in a patient with
facioscapulohumeral disease. Am J Hum Genet 48(3):502-10.
Passos-Bueno MR, Byth B, Love D, Terwilliger J, Ott J, Rapaport D,
Valnzof M, Zatz M, Davies KE, (1991). Exclusion of the gene responsible for
facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27. J Neurol Sci
102(2):206-8.
Shimizu T, Miyamoto K, Hayashi H, Nagashima T, Hirose K, Tanabe H, (1991).
[Congenital facioscapulohumeral muscular dystrophy associated with tongue
atrophy and sensorineural hearing disturbance]. Rinsho Shinkeigaku
31(4):433-8.
Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner
EC, Weber JL, van Ommen GB, Sandkuyl LA, et al. (1991). Mapping of
facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by
multipoint linkage analysis and in situ hybridization. Genomics 9(4):570-5.
Ohno Y, Nakata Y, Sumiyoshi M, Hisaoka T, Ogura S, Nakazato Y, Yamaguchi
H, (1991). [A case of facioscapulohumeral muscular dystrophy complicated with
complete A-V block]. Kokyu To Junkan 39(5):491-5.
Akiyama C, Suzuki H., Nonaka I, (1991). [A case of facioscapulohumeral
muscular dystrophy with infantile spasms, sensorineural deafness and retinal
vessel abnormality]. No To Hattatsu 23(4):395-9.
Shapiro F, Specht L, Korf BR, (1991). Locomotor problems in infantile
facioscapulo-humeral muscular dystrophy. Retrospective study of 9 patients.
Acta Orthop Scand 62(4):367-71.
Lin MY, Nonaka I, (1991.) Facioscapulohumeral muscular dystrophy: muscle fiber
type analysis with particular reference to small angular fibers. Brain Dev
13(5):331-8.
Lunt PW, Harper PS, (1991). Genetic counseling in facioscapulohumeral muscular
dystrophy. J Med Genet 28(10):655-64.
Shen EN, Madsen T, (1991). Facioscapulohumeral muscular dystrophy and
recurrent pacemaker lead dislodgement. Am Heart J 122(4 Pt 1):1167-9.
Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper
PS, (1991). A closely linked DNA marker for facioscapulohumeral disease on
chromosome 4q. J Med Genet 28(10):665-71.
Brouwer OF, Padberg GW, Ruys CJ, Brand R, de Laat JA, Grote JJ, (1991).
Hearing loss in facioscapulohumeral muscular dystrophy. Neurology
41(12):1878-81.
1992 n n n
Weiffenbach B, Bagley RG, Falls K, Dubois J, Hyser C, Storvick D, Schultz
P, Mendell JR, Milner EC, Jacobsen SJ, et al, (1992). Framework multipoint
map of the long arm of human chromosome 4 and telomeric localization of the
gene for FSHD. Mamm Genome 3(3):143-50.
Padberg GW, (1992). Why cells die in facioscapulohumeral muscular dystrophy.
Clin Neurol Neurosurg 94 Suppl:S21-4.
Badalian LO, Temin PA, Mukhin Klu Bulaeva NBV, Zavadenko NN, Nikanorova
Mlu Shnaidman RV, Lysov VL, (1992). [Infantile facioscapulohumeral muscular
dystrophy] Infantil'naia litse-lopatochno-plechevaia myshechnaia
distrofiia. Zh Nevropatol Psikhiatr 92(3):28-30.
Pauleikhoff D, Bornfeld N, Bird AC, Wessing A, (1992). Severe visual loss
associated with retinal telangiectasis and facioscapulohumeral muscular
dystrophy. Graefes Arch Clin Exp Ophthalmol 230(4):362-5.
de Visser M, de Voogt WG, la Riviere GV, (1992). The heart in Becker muscular
dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve
15(5):591-6.
Gilbert JR, Stajich JM, Speer MC, Vance JM, Stewart CS, Yamaoka LH,
Samson F, Fardeau M, Potter TG, Roses AD, et al, (1992). Linkage studies in
facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 51(2):424-7.
Mathews KD, Mills KA, Bosch EP, Lonasescu VV, Wiles KR, Buetow KH, Murray
JC, (1992). Linkage localization of facioscapulohumeral muscular dystrophy
(FSHD) in 4q35. Am J Hum Genet 51(2):428-31.
Mills KA, Buetow KH, Xu Y, Ritty TM, Mathews KD, Bodrug SE, Wijmenga C,
Balazs I, Murray JC, (1992). Genetic and physical mapping on chromosome 4
narrows the localization of the gene for facioscapulohumeral muscular dystrophy
(FSHD). Am J. Hum Genet Aug 51(2):432-9.
Sarfarazi M, Wijmenga C, Upadhyaya M, Weiffenbach B, Hyser C, Mathews K,
Murray J, Gilbert J, Pericak-Vance M, Lunt P, et al, (1992). Regional
mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined
analysis of an international consortium. Am J Hum Genet 51(2):396-403.
Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS,
(1992). The mapping of chromosome 4q markers in relation to facioscapulohumeral
muscular dystrophy (FSHD). Am J Hum Genet 51(2):404-10.
Weiffenbach B, Bagley R, Falls K, Hyser C, Storvick D, Jacobsen SJ,
Schultz P, Mendell J, Willems van Dijk K, Milner EC, et al, (1992). Linkage
analysis of five chromosome 4 markers localizes the facioscapulohumeral
muscular dystrophy (FSHD) gene to distal 4q35. Am J Hum Genet 51(2):416-23.
Wijmenga C, Sandkuijl LA, Moerer P, van der Boorn N, Bodrug SE, Ray PN,
Brouwer OF, Murray JC, van Ommen GJ, Padberg GW, et al, (1992). Genetic
linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci
on chromosome 4q35-qter. Am J Hum Genet 51(2):411-5.
Fischbeck KH, Garbern JY, (1992). Facioscapulohumeral muscular dystrophy
defect identified. Nature Genet 2:3-4.
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG,
Gruter AM, Hofker MH, Moerer P, Williamson R, et al, (1992.) Chromosome 4q
DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat
Genet 2(1):26-30.
Wijmenga C, Brouwer OF, Padberg GW, Frants RR, (1992). Transmission of
de-novo mutation associated with facioscapulohumeral muscular dystrophy.
[letter] Lancet 17 340(8825): 985-6.
Brouwer OF, Padberg GW, van der Ploeg RJ, Ruys CJ, Brand R, (1992). The
influence of handedness on the distribution of muscular weakness of the arm in
facioscapulohumeral muscular dystrophy. Brain 115 (Pt 5):1587-98.
Horikawa H, Takahashi K, Nishio H, Mano Y, Takayanagi T, (1992). [X-ray
computed tomographic scans of lower limb and trunk muscles in
facioscapulohumeral muscular dystrophy] Rinsho Shinkeigaku 32(10):1061-6.
Ville I, Ravaud JF, Marchal F, Paicheler H, Fardeau M, (1992). Social
identity and the International Classification of Handicaps: an evaluation of
the consequences of facioscapulohumeral muscular dystrophy. Disabil Rehabil
14(4):168-75.
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
Winokur S, Bengtsson U, Feddersen J, Mathews K, Weiffenbach B, Bailey H,
Markovich R, Murray J, Wasmuth J, Altherr M, Schutte B, (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 Research
1994, 2.
Meet the Board
Robert H. Brown, Jr. M.D., D.Ph
A member of our Scientific Advisory Board, Dr. Robert H. Brown is an associate
neurologist at the Massachusetts General Hospital, associate professor of
neurology at Harvard Medical School and Director of the Cecil B. Day
Labor-atory for Neuromuscular Research. The focus of the Laboratory is the
study of neuromuscular diseases including Lou Gehrig's disease. A
recipient of many awards and honors, Dr. Brown has published extensively and
most recently has been involved in major breakthroughs in ALS.
Lady W. Hall
Lady W. Hall is active in community and church affairs. A graduate of Louisiana
State University, she lives in DeRidder, Louisiana. She is dedicated to
informing the public on FSH issues as a concerned parent and FSH patient.
William E. Hall, Jr., J.D.
Judge William E. Hall, Jr. is a practicing attorney and Senior Partner with
Hall, Lestage, and Landreneau in Louisiana. Active in pursuing solutions to
FSHD, Judge Hall brings years of knowledge of the legislative process to our
Society. A veteran of WW II, he retired as a city judge after 29 years.
Stephen J. Jacobsen, Ph.D.
Dr. Jacobsen is Vice President of our Society and a member of the Scientific
Advisory Board. During his ten years as a researcher on FSHD, Dr. Jacobsen has
published many papers while associated with the University of California at San
Diego School of Medicine. As a result of his work in establishing a FSHD cell
bank, Dr. Jacobsen recognized the need to network and create the Society which
would advocate for FSHD resources. Dr. Jacobsen currently resides in San Diego
where he is the Director of our West Coast office.
Karen L. Johnsen
Currently a continuing education college student, Ms. Johnsen has been the
leader of the FSH Support Group in Maryland for the past five years. Ms.
Johnsen is currently Miss Wheelchair Maryland which puts her in contact with
the public on disability issues. Her mission in the FSH Society is to promote
public awareness of FSH issues.
Louis Kunkel, Ph.D.
Dr. Kunkel is Chief of the Division of Genetics at The Children's
Hospital, Boston. As investigator with the Howard Hughes Medical Institute, Dr.
Kunkel is known for locating the DMD gene. Currently associated with Harvard
Medical School, Dr. Kunkel continues his interest in research into
neuromuscular diseases. Among other major honors, he is the recipient of the
1991 Silvio O. Conte Decade of the Brain Award .
Richard A. Lefebvre, FHFMA
As Secretary of the Society, Mr. Lefebvre is a seasoned health care
professional with extensive operational experience in the health care industry
in both the profit and nonprofit sectors. He is the Group Vice President for
Quorum Health Resources the world's largest organization that manages
and operates hospitals. As an FSH patient, he is interested in expediting a
solution to the FSH problem.
William R. Lewis, M.D.
A member of our Scientific Advisory Board, Dr. Lewis, a practicing neurosurgeon
in Monterey, CA has a special interest in FSH since he has children with this
diagnosis.
William R. Lewis III, M.D.
A member of our Scientific Advisory Board, Dr. Lewis is an Assistant Professor
of Cardiology at the University of California, Davis and has been doing
research on myoblast transfer as a treatment for heart disease. As an
individual with FSH, Dr. Lewis is committed to the activities of our Society.
William G. Michael, C.P.A.
As the elected Treasurer of the FSH Society, Mr. Michael brings his expertise
as a Certified Public Accountant for nonprofits to our organization. A
practicing CPA in Boston, Mr. Michael brings his commitment to our Society as a
parent of an adult son with FSH.
Theodore L. Munsat, M.D.
A past president of the American Academy of Neurology, Dr. Munsat serves on our
Scientific Advisory Board. He is Director of the Neuromuscular Research Group,
Department of Neurology, New England Medical Center in Boston. Dr. Munsat is a
professor of neurology and pharmacology at Tufts University. He is a leading
researcher in the field of neuromuscular diseases.
Daniel P. Perez
Founder and President of the FSH Society, Daniel Perez is currently an
associate director in the software division of a market research company in
Massachusetts. Mr. Perez's dedication to founding the FSH Society
began when he met Dr. Stephen Jacobsen in 1989. With Daniel Perez's
hard work in developing the by-laws of the Society and incorporating our
organization as a nonprofit corporation and organizing the Board of Directors,
the FSH Society has become a viable force for information and advocacy on
FSHD.
Paul Schultz, M.D.
The Chairman of our Scientific Advisory Board, Dr. Schultz is the Director of
the Muscle Disease Clinic of Children's Hospital, San Diego, CA. As
clinical professor of neurosciences and pediatrics, Dr. Schultz has a strong
interest in the clinical aspects of neuromuscular disease. Dr. Schultz has
published research papers on FSHD with Dr. Jacobsen and Dr. Weiffenbach.
R. Morgan Downey
The general counsel to the FSH Society is R. Morgan Downey of Hoffheimer &
Downey in Washington, D.C. Mr. Downey and his partner have been involved in
advocacy work for neurological disorders for the past 17 years.
Hoffheimer & Downey
Hoffheimer & Downey, general counsel for the FSH Society, specializes in
the provision of legal, legislative, consultative and management services to
corporations, professional societies, voluntary health agencies, trade
associations and universities involved in neuroscience, neurological disorders,
communication sciences and disorders and neurocomputing and neurorehabilitation
fields.
Among the firm's clients are: The National Foundation for Brain
Research, The International Neural Network Society, The National Coalition for
Research in Neurological Disorders, The Academy for Neurologic Communication
Disorders, and The National Association for Clinical NeuroServices (naCNS). The
firm also represents a soon-to-be-announced university department of
neuroscience and manages a university industry joint venture for technology
transfer and drug development.
Morgan Downey, partner in the firm, is a graduate of Georgetown University Law
Center. His career includes working on the staff of a former member of the
United States Senate, legislative advocacy for public interest organizations,
and 11 years as director of governmental and legal affairs for the American
Speech-Language-Hearing Association. He is a member of the Bar of the District
of Columbia, the National Health Lawyers Association, the Computer Law Society
and the American Bar Association, Section of Health Law and Section on Science
and Technology.
Lawrence S. Hoffheimer is a member of the bar of the District of Columbia and
Virginia. He was a trial attorney in the Justice Department and has been in
private practice since 1972. He has represented many health care clients
including the Group Health Association and the National Multiple Sclerosis
Society. Since 1977, he has been intensely involved in biomedical research and
serves as the director of the National Coalition for Research on Neurological
Disorders.
FSH Groups Welcome New Members
The New England FSHMD group and the Capitol FSHMD group are currently the only
two groups in the United States offering the unique opportunity to meet others
and share information and support on FSHMD issues. Regular meetings are held
every two months covering topics specific to FSHMD. The groups are fortunate to
have leading researchers and clinicians present the most current genetic and
clinical information. A variety of other experts have addressed nutrition,
exercise and coping strategies as they relate to FSHMD.
Since 1989, Carol Perez has facilitated the New England group and Karen Johnsen
has led the Capitol group which includes Maryland, Virginia, Washington D.C.,
Delaware and Pennsylvania. New members are always welcome to join the group and
participate in these informational meetings.
We are pleased to announce the opening of a third group in the Philadelphia
area in June, 1994. This group will cover Pennsylvania, Delaware, southern New
Jersey and is open to anyone who wishes to attend from any area. If you have
any questions about the groups, please feel free to contact the following:
Carol A. Perez, 3 Westwood Road, Lexington, MA 02420, (617) 860-0501 or Karen
Johnsen, 12203 Foxhill Lane, Bowie, MD 20715, (301) 262-0701.
History of the FSH Society
The history of the FSH Society can be traced to the ongoing interests of Daniel
Perez and Stephen Jacobsen to contribute to the progress of research in this
disease. The two met in 1988 during Dr. Jacobsen's work in
establishing a national FSHD cell bank. There was a mutual interest in
establishing a national information network and educating affected individuals,
and creating a mechanism that could enhance awareness of governmental and
private sectors to meet the needs of the research and clinical communities.
Dr. Jacobsen contacted affected individuals and families that were part of his
studies and provided an opportunity for them to contact Daniel Perez and be
part of an organization dedicated specifically for FSHD issues. A large number
of individuals expressed interest and, subsequently, research updates were
provided. Several FSHD support groups were established on the east and west
coasts. Mr. Perez began work on creation of a tax-exempt charitable
corporation. Through the firm of Hoffheimer and Downey in Washington, D.C., the
corporation was established in June of 1991 and tax-exempt status was
subsequently obtained.
In July of 1992, a group of family members, physicians and businessmen met in
San Diego to establish initial working priorities for the Society. Under the
counsel of Mr. Downey, the Society embarked on the task of establishing a Board
of Directors, soliciting donations and establishing an account. By late summer
of 1993, these goals were accomplished through generous donations of time and
money from many individuals of affected families and their friends.
From its inception, the Society desired to work with other organizations in a
positive fashion. Consequently, in October and November of 1993, the Society
established contact and liaisons with medical and charitable organizations,
basic research and clinical groups involved in the study of the disease, and
similar FSHD support groups in Europe.
--Stephen J. Jacobsen, Ph.D.
East Coast Office Update
It is with great pleasure that I introduce myself and the east coast office in
this first edition of the FSH Watch. As one of the founders of the FSH Society,
I am impressed by your overwhelming and positive response to our organization
which is dedicated to the education and empowerment of those concerned with
FSHD.
As a volunteer, I administer the business office and east coast information,
referral and resource center. Having more than twenty years experience in the
area of human service administration and provision of rehabilitation services,
I strongly support advocacy and networking to help individuals manage their way
to maximizing their quality of life and health. Working together with the
medical community and service providers, individuals and family members can
make informed decisions and be proactive.
I thoroughly enjoy meeting you by phone and mail and working jointly to
accomplish our goals. After many years devoted to helping others, I look with
satisfaction to using my experience to help ourselves know, to the fullest
extent possible, the nature of our disorder and ensuring that information is
made available to all.
I welcome your calls and letters and look forward to an active and productive
year.
--Carol A. Perez, M.Ed., C.R.C
West Coast Office Update
The west coast office is available for your calls or correspondence concerning
questions and needs regarding FSH. Please feel free to call anytime. I have a
lifetime of experience with FSHD, many years of research regarding the disease
and can help you with your questions or direct you to those who may be able to
do so. Welcome to the FSH Society!
--Stephen J. Jacobsen, Ph. D.