Things scientists liked best at Conference 1997:

RESEARCHERS

Sao Paulo, Brazil
Researcher(s): M. Rita Passos-Bueno, Mayana Zatz
Address: Depart. de Biologia, Instituto de Biosciencias, Universidade de Sao Paulo, Rua de Matao 227, 05508-900, Sao Paulo, SP, Brazil
Interest(s): Clinical and occupational

Bristol, England
Researcher(s): Peter Lunt, Philip Jardine
Address: Bristol Royal Hospital for Sick Children, Clinical Genetics Service, St. Michael's Hill
Bristol BS2 8BJ, England
Interest(s): Molecular genetics and clinical

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

Manchester, England
Researcher(s): Jane Hewitt, Robert Lyle, Lorraine Clark, Elizabeth M. Valleley
Address: Department of Cell and Structural Biology, Stopford Building, University of Manchester Medical School, Oxford Road, Manchester M13, United Kingdom
Interest(s): Molecular genetics

Boulogne, France
Researcher(s): Yves Rideau
Address: Unite Duchenne de Boulogne, Centre Hospitalier Universitaire, BP 577, 86021 Poitiers Cedex, France
Interest(s): Orthopedic Surgery (Scapula Fixation), Corrective Procedures for FSHD.

Cedex, France
Researcher(s): Jon Andoni Urtizberea
Address: Association Francaise contre les Myopathies (AFM), 1 rue Internationale, BP59, 91002 Evry Cedex, France
Interest(s): Clinical and molecular genetics
Update: Jon Andoni Urtizberea, M.D. presented the "Evaluation of socio-familial and clinical status in facio-scapulo-humeral muscular dystrophy: Results of a survey of 270 French patients" at the 1997 FSH Society Network Conference in April. The abstract and excerpts appear in this FSH Watch
On May 7, 1997, more than one hundred participants attended the scientific meeting for the French FSHD clinicians group with invited guests, John Kissel, Ohio State University and George Padberg, Nijmegen University, the Netherlands. Contact J. Andoni Urtizberea, Medical Director, AFM, for details about this successful meeting.
Note: As of 8/1/97, Jon Andoni Urtizberea, M.D. will be at the Institut de Myologie, Batiment Babinski, Hopital Salpetriere, 75651 PARIS Cedex 13, France

Paris, France
Researcher(s): Michael Fardeau
Address: Institut National de La Sante et, de le Recherche Medicale, 17 Rue du Fer-a-Moulin, 75005 Paris, France
Interest(s): Clinical
Researcher(s): Marc Jeanpierre, Jean-Claude Kaplan
Address: Hospital Cochin-Maternites, Sericede Biochemie Genetique 123, Boulevard de Port-Royal, 75014, Paris, France
Interest(s): Molecular genetics

Rome, Italy
Researcher(s): Giancarlo Deidda, Luciano Felicetti, Rossela Tupler
Address: Department of Molecular Biology, Istituto di Biologia Cellulare, 43 viale Marx, 00137, Roma, Italy
Interest(s): Molecular genetics

Tokyo, Japan
Researcher(s): Kiichi Arahata, J.H. Lee, Chirhiro Akazawa, Masanori Funakoshi
Address: Division of Neuromuscular Research, National Institute of Neuroscience, NCP, 4-1-1 Ogawahigashi, Kodiara, Tokyo, 187, Japan
Interest(s): Molecular genetics and clinical

Leiden, Netherlands
Researcher(s): Oebo F. Brouwer
Address: Department of Neurology, University Hospital Leiden, P.O. Box 9600, 2300 RC Leiden, The Netherlands
Interest(s): Molecular genetics
Researcher(s): Rune Frants, Marten Hofker, Egbert Bakker, Silvere van der Maarel
Address: Institute for Anthropogenetica, MGC-Department of Human Genetics, Leiden University Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Interest(s): Molecular genetics

Nijmegen, Netherlands
Researcher(s): George W.A.M. Padberg, Oscar Vogels
Address: Institute for Neurology, University Hospital Nijmegen, Department of Neurology, Reinier Postlaan 4, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
Interest(s): Molecular genetics and clinical

St. Petersburg, Russia
Researcher(s): Valery M. Kazakov, Dimitry Rudenko
Address: Department of Neurology, Pavlov's Medical Institute, L. Tolstoy Str. 6/8, 197089 St., Petersburg, Russia
Interest(s): Clinical
Update: Dr. Kazakov has completed "Variability Expressivity of the Fascioscapulohumeral Muscular Dystrophy Gene - Part I" (Collection of photographs of different degree of affectation of the individual muscles and muscle groups, and abnormal postures of separate segments of limbs and the body with description of some clinical signs for their diagnosis in patients with fascioscapulohumeral muscular dystrophy).

Pretoria, South Africa
Researcher(s): Antonel Olckers
Address: University of Pretoria,
Dept Human Genetics and Developmental Biology, POBox 2034, Pretoria, South Africa 0001
Interest(s): Molecular genetics

Marburg, West Germany
Researcher(s): Manuela Koch
Address: Med. Zentrum fur Humangenetik, Abtlg 1, der Philipps Universitat Marburg, Bahnhofstrasse 7, 35037 Marburg Germany
Interest(s): Molecular genetics
Abstract: "Cardiac involvement in facio-scapulo-humeral muscular dystrophy: a family study using Thallium-201 single-photon-emission-computed tomography" P.M. Faustmann, J. Farahati, B. Rupilius, R. Dux, M.C. Koch, C. Reiners. Fifteen persons from two consecutive generations of one family affected with facio-scapulo-humeral muscular dystrophy (FSHD) were clinically and neurophysiologically examined. Diagnostic muscle biopsies were obtained from two members. Linkage analysis showed that all four affected members of the family inherit the same 4q35 haplotype giving a lod sore of: =+1.44. Six family members were examined by ECG at rest and under stress by two-dimensional echocardiography, and by cardiac Thallium 201 single photon emission computed tomography (TI-201-SPECT) under dobutamine stress and at rest. Abnormal reduced TI-201 uptake in cardiac SPECT was only found in the affected members of the family. Therefore we suggest that cardiac TI-201-SPECT abnormalities in FSHD reflect cardiomyogenic changes in this type of muscular disease.

United States of America
Davis, CA
Researcher(s): M. Brewer; D.D. Kilmer; R.T. Abresch; S.G. Aitkens; G.T. Carter; W.M. Fowler; E.R. Johnson; C.M. McDonald; ·.J. Wright
Address: 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
Abstract: "Employment Profiles In Neuromuscular Diseases" William M. Fowler, Jr., MD, Richard T. Abresch, MS, Todd R. Koch, Ph.D., Mary Louise Brewer, PHN, Russell K. Bowden, BA and Richard L. Wanlass, Ph.D. Consumer and rehabilitation provider factors that might limit employment opportunities for 154 individuals with six slowly progressive neuromuscular diseases (NMD) were investigated. The NMDs were spinal muscular atrophy (SMA), hereditary motor sensory neuropathy (HMSN), Becker's muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD), myotonic muscular dystrophy (MMD), and limb-girdle syndrome (LGS).

Forty percent were employed in the competitive labor market at the time of the study, 50% had been employed in the past, and 10% had never been employed. The major consumer barrier to employment was education. Other important factors were type of occupation, intellectual capacity, psychosocial adjustment, and the belief by most individuals that their physical disability was the only or major barrier to obtaining a job. Psychological characteristics were associated with level of unemployment. However, physical impairment and disability were not associated with level of unemployment. There also were differences among the types of NMDs. Compared with the SMA, HMSN, BMD, and FSHD groups, the MMD and LGS groups had significantly higher levels of unemployment, lower educational levels, and fewer employed professional, management, and technical workers. Nonphysical impairment factors such as a low percentage of college graduates, impaired intellectual function in some individuals, and poor psychological adjustment were correlated with higher unemployment levels in the MMD group. Unemployment in the LGS group was correlated with a failure to complete high school. Major provider barriers to employment were the low level of referrals to Department of Rehabilitation by physicians and the low percentage of acceptance into the State Department of Rehabilitation. The low rate of acceptance was primarily attributable to the low number of referrals compounded by a lack of counselor experience with individuals with NMD. Both consumer and provider barriers may contribute to the lack of interest in obtaining a job.

Irvine, CA
Researcher(s): Sara T. Winokur; Ulla Bengtsson; Michael Altherr*
Address: University of California, Irvine, School of Medicine, Department of Biological Chemistry, D240 Medical Science Institute, Irvine CA92717
Interest(s): Molecular genetics Notes: *Michael Altherr is currently with the Genomics and Structural Biology Group, LANL, Los Alamos, NM Los Angeles, CA
Researcher(s): Stanley F. Nelson
Address: University of California, Room 3256, RNRC, 710 Westwood Plaza, UCLA Medical School, Los Angeles, CA 90024
Interest(s): Molecular Genetics

Iowa City, IA
Researcher(s): Kathrine Mathews, Kate Mills, Jennifer Tresnak
Address: Department of Pediatrics, 216 MRC, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242
Interest(s): Molecular genetics , clinical and mouse model

Boston, MA
Researcher(s): David C. Preston
Address: Brigham & Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115
Interest(s): Neuromuscular Service
Researcher(s): Barbara E. Shapiro, Neurology Service
Address: Massachusetts General Hospital, 15 Parkman Street, Acc #835, Boston, Massachusetts 02114
Interest(s): Clinical and nutritional

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

Rochester, NY
Researcher(s): Robert Griggs; Rabi Tawil; Denise Figlewicz; Lynn Cos; James Forrester; Michael McDermott
Address: 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
Update: Request for participants. We are currently recruiting persons with FSHMuscular Dystrophy to participate in a double-blind research trial of Proventil® (Albuterol) vs. placebo in the treatment of FSHD. Proventil® is a medication used to treat asthma but has shown experimentally to increase muscle bulk and strength in normal individuals. Participants in this study must be between 18 and 60 years of age and should not have a history of heart disease or high blood pressure. Eligible subjects will be taking the experimental treatment for one year and strength and muscle mass will be measured during 3 day inpatient visits at the start, 6 months, and 1 year (end of study). Participants are also expected to return for two outpatient visits, at 1 and month 3 to check for side effects. If you are interested in participating in this study, or would like more information, please call Lynn Cos, R.·. at (716) 275-7680. We are accessioning patients for the Albuterol study at a good comfortable rate. Both Ohio State and the University of Rochester have each entered approximately 15 patients. The first patients entered are about to come in for their 6-month visit. It is too early to have any results, but as usual, all our study subjects are cooperating with true dedication. We thank all of those now participating and look forward to hearing from any "new" people interested in the study. —Lynn Cos

Abstract: "Distinct Patterns of Weakness in Facioscapulohumeral Muscular Dystrophy (FSHD)" Michael P. McDermott, Rochester, NY; Rabi Tawil, Rochester, NY; Rajeshwari Natarajan, Rochester, NY; the FSH-DY group. FSHD is an autosomal-dominant disorder having marked clinical heterogeneity. Criteria for identifying clinically distinct clusters of patients may be useful for understanding the molecular mechanisms underlying the genetic defect and for predicting future disease course.

Seventy-seven FSHD patients underwent maximum voluntary isometric contraction testing in 18 muscle groups. Multivariate statistical techniques (cluster analysis and biplots) were used to identify groups of patients having distinct patterns of weakness. Four highly distinct clusters were identified: predominant arm weakness (·=10), predominant distal leg weakness (·=14), predominant arm and distal leg weakness (·=2), and a mixed group who either have a relatively benign course or have not yet progressed to membership in one of the above clusters (·=51). Members of the same family had similar patterns of weakness and did not belong to different clusters, with the exception of the mixed cluster.

These data strongly suggest that there are 2-3 distinct patterns of disease progression in FSHD. Moreover, patterns of involvement are consistent within families suggesting that interfamilial differences in either the primary genetic defect (allelic heterogeneity) or secondary genetic factors influence the FSHD phenotype. This information may be useful for understanding the genetic defect and in the design of clinical trials.

Abstract: "A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): Implications for therapeutic trials" University of Rochester/The FSH-DY Group Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder localized to 4q35. Neither the gene nor the gene product has been identified. There is presently no established treatment for FSHD. Prospective data on the natural history of this disorder are essential for the effective design of therapeutic trials. We systematically followed 81 well-defined FSHD patients for up to 3 years using a standardized protocol that included manual muscle testing (MMT), maximum voluntary isometric contraction testing (MVICT), and functional testing. Muscle strength was strongly associated with measures of muscle mass, age at onset, and duration of disease. Decline in strength over time was slow but detectable with both MVICT and MMT. The magnitude of decline was not associated with either age, gender, age at onset, or duration of disease. This study establishes reliable and valid measures of disease state and progression for use as outcome variables in clinical trials in FSHD, and also provides guidelines for determining sample size and duration of follow-up. A two-armed clinical trial involving 160 patients per group and 1 year of follow-up would provide 80% power to detect complete arrest of the progression of the disease. Trials with fewer patients would thus have adequate power to detect only improvements in strength, unless follow-up duration was extended well beyond 1 year.

Durham, NC
Researcher(s): Margaret Pericak-Vance, John R. Gilbert, Marcy Speer
Address: Duke University Medical Center, 227D Bryan Research Building, P.O. Box 2900, Durham, North Carolina 27710
Interest(s): Molecular genetics
Update: We continue our efforts to identify the gene responsible for the non-chromosome 4 linked form of FSHD. To date, we have studied 14 large families with evidence for autosomal dominant transmission. Of these about 9 show evidence for linkage to chromosome 4, and 5 appear to be unlinked to the chromosome 4 locus. We have concentrated our mapping efforts on the largest of our non-chromosome 4 families. We have tested more than 280 genetic markers scattered across each of the 22 different autosomes to find evidence for the other FSHD locus. We have excluded about 80% of the genome and are working on the remaining 20%.

Recently, evidence for chromosomal exchange between the chromosome 4 FSHD region and the end of the q arm (the long arm) of chromosome 10 was reported. We excluded this region using newly identified genetic markers in our largest FSHD family, supporting evidence that although there is a high degree of similarity between the ends of chromosomes 4 and 10 that there is not an FSHD locus in this region of 10q. We continue to enlist the assistance of families with FSHD, and if you would like to participate in our linkage studies, please feel free to contact Jeff Stajich at (800)283-4316 or via email at stajich@dnadoc.mc.duke.edu.

Our work to identify the non-4 form of FSHD continues with the support of grants from the Muscular Dystrophy Association and the National Institutes of Health. Submitted by John Gilbert, Marcy Speer, Jeff Stajich, and Margaret Pericak-Vance; Duke University Medical Center, Durham, NC Columbus, OH
Researcher(s): Jerry Mendell, John T. Kissel
Address: Department of Neurology, Ohio State University Hospitals, Room 463-Means Hall, 1654 Upham Drive, Columbus, Ohio 43210
Interest(s): Clinical Update: Request for participants. We are starting a clinical trial of a medicine called Proventil ® for facioscapulohumeral muscular dystrophy. Proventil (drug name, albuterol) is an epinephrine-like drug usually used for asthma and other lung diseases, which in preliminary studies increased muscle mass in patients with FSH. We are quite excited about the study, and are already getting calls from patients. Although we know that many of you will not be eligible for the study, we thought you would be interested in reading about it.

The study is being done in conjunction with the University of Rochester in Rochester, New York. The plan is to study 100 patients who will be randomized into 1 or 3 groups, namely low-dose Proventil, high-dose Proventil, and placebo. None of the investigators involved in the study will know which group you are assigned to until the whole study is completed. Because of the nature of the study, we are restricting it to patients between the ages of 18 and 60 who are able to walk at least 30 feet. The study involves three hospital stays of three days each in the Clinical Research Center at the beginning of the study and after 6 and 12 months. Two additional out-patient visits one month and three months after the start of the study will also be required.

Although Proventil is a safe drug, it does have side effects which are outlined in the consent form (and will be discussed with you in details before you agree to participate). Since the medication does have effects on the heart, we are obtaining screening electrocardiograms on all patients before they participate. In addition, we are asking any patients who are considering being in the study who have had any type of chest pain, rapid heart beats, shortness of breath, previous abnormal EKGs, a prominent family history of heart disease or other symptoms which have caused them concern to please consult their family doctor before being evaluated for participation. People with known prior heart disease, including prior heart attacks or rhythm disturbances, will unfortunately have to be excluded from the study. If there are any questions concerning the status of your heart, we can have you evaluated by one of our Ohio State University cardiologists, but this must be covered by your own private insurance and will not be paid for as part of the study.

Our present plan is to recruit 50 patients each at Ohio State and the University of Rochester. We anticipate there will be a place in the study for everyone who wants to participate. Please call Karen Downing, our study coordinator, at 614/292-1234 if you are interested in participating. We may ask to have your medical records sent here to review if you are not one of our regular patients.

The FSH Society depends on YOUR contributions to continue its work!
Please consider a tax-deductible contribution today!
Contributions to the FSH Society are tax-deductible and acknowledged for tax purposes. Please make checks payable to the FSH Society and send contributions to: Carol A. Perez, Executive Director, FSH Society, Inc. 3 Westwood Road, Lexington MA 02420

BRAIN AND TISSUE BANKS FOR DEVELOPMENTAL DISORDERS

The Brain and Tissue Banks for Developmental Disorders at the University of Maryland in Baltimore and the University of Miami are tissue resources established to further research aimed at improved understanding, care and treatment of developmental disorders. The Brain and Tissue Banks were funded by the National Institute of Child Health and Human Development to serve as intermediaries between people who wish to have tissue donated for research upon the time of their death and the researchers who need this tissue for their vital work. If you are interested in becoming a registered donor, or if you have any questions or concerns regarding the donation process, please contact Sally Wisniewski, Project Coordinator, at 1-800-847-1539. Thank you for taking the time to consider the possibilities offered to humanity through the great gift of tissue donation. Internet site: gopher://gopher.btbank.ab.umd.edu:1070

ABSTRACT OF A STUDY IN THE NETHERLANDS: PAIN RELATED TO FSH DYSTROPHY

Dr. C.P. Koetsier (1997) "Pain related to FSH dystrophy. An underestimated problem? Results of an inquiry in The Netherlands Baarn VSN."
_____________________________
We wish to thank Prof. Dr. G.W.A.M. Padberg for his helpful comments during the study. The questionnaire on pain, based on the French Survey, was designed and completed by Dr. C.P. Koetsier who is a member of the Diagnostic Support Group of FSH Dystrophy with the support of the medical advisors, Dr. G.W.A.M. Padberg and Dr. O.F. Brouwer and the head office of the VSN.

The response on the written questionnaire on pain and pain experience among FSH Dystrophy members of the Dutch Neuromuscular Diseases Organization was 71% (109 persons), approximately 18% of the estimated number of FSH Dystrophy patients in The Netherlands. The average age of the respondents is around 44 years. Most of the FSH Dystrophy diagnoses are set in the age groups: 11-20 year old (26%) and 31-40 year old (26%).

About three quarters of the respondents (74%) experience pain for more than four days a month and 58% for four or more days a week. The percentage of "daily pain" concurs with that of the study the French Neuromuscular Disease Organization Association Francaise contre les Myopathies (AFM), namely 32%. According to a recent study among the Dutch population, this percentage is remarkably higher than the percentage of pain of Dutch people with chronically painful muscles and/or joints (16%).

The majority of the complaints about pain are attributed to exertion (91%) and wrong posture as a result of the dystrophy (74%). Temperature (48%) and degree of humidity (27%) seem to have a significant influence on the complaints about pain. Remarkable is that the respondents indicate that the pain can not always be explained logically from a point of (over)exertion, wrong posture or temperature and that the pain also occurs during times of rest. The pain reveals itself in several parts of the body.

The respondents take several measures to relieve the pain, the effect of which is not sufficient and only a temporary nature; the pain always recurs. The pain has a substantial influence on wellbeing and functioning. This conclusion is supported by the figures of the recent study among the Dutch population (mentioned above). Respondents in our study name different effects of (almost constant) pain on the wellbeing and functioning. A number of respondents mentioned that caregivers do not take the pain complaints related to FSH dystrophy seriously. This can probably be attributed to a lack of actual information about pain with FSH dystrophy.

The causes of pain related to FSH dystrophy from a medical point of view are unknown. Research into these causes seems, in light of the rather shocking results of this explorative study and that of the AFM, desirable. —Miranda Vashtal, Diagnostic Support Group for FSH Dystrophy, VSN, The Netherlands

Source: Excerpts from Pain, Pain Go Away by Richard Robinson in "Access-Able Information," Vol. 10, No. 2, Summer, 1997. Published by S.M.D.I. International.
While the muscle-wasting disease process of FSHD does not cause pain, there is often pain or discomfort associated with the consequences of that process. The muscle weaknesses of FSHD force changes in posture. If uncorrected, these changes are often painful. Muscles that attach to and surround joints play an important part in maintaining the functional integrity of the joint. For example, when the weight of the arms is too great for weakened muscles of the shoulder girdle, partial dislocation of the shoulder joint can occur. This may stimulate pain receptors in the joints. Further, irritation of the ball-and-socket joint can lead to some chronic inflammation. If tolerated and used judiciously, certain non-steroid, anti-inflammatory drugs, such as the ibuprofen or even prescription steroids, may help relieve the pain. Additional approaches such as slings have been found helpful in relieving the strain on the weakened muscles. Surgical intervention to increase support for the shoulder joint can be considered when other methods do not provide adequate relief from the pain.

On April 13, 1997, Dr. J. Andoni, Urtizberea, M.D. presented the survey "Evaluation of Socio-Familial and Clinical Status in Facio-scapulo-humeral Muscular Dystrophy: Results of a Survey of 270 French Patients" at the FSH Society Network conference in Waltham, MA. The following excerpt is printed with permission of the AFM.

Frequent episodes of pain, of both muscular and non-muscular origins, were reported. These episodes often occurred on a daily basis (in these cases, there was a female predominance) several days a week or several days per month. Only 5.6% of patients reported no pain. This pain was described as discomfort (36%), aching pain (35%), cramps (29%), burning (24%) or gnawing (20%) and was reported as either permanent (14%) or intermittent (31%). The pain was localized mainly in the spine (for over half the subjects), in the scapular girdle and in the lower limbs. Triggering factors were mainly effort (21%), fatigue (16%), coldness or humidity (14%), or bad positions (12%). Almost half the patients (43%) utilized analgesics, with beneficial effects in 79% of the cases. The most commonly prescribed medications were paracetamol, nonsteroid anti-inflammatories and salicylates. Hot baths or showers also produced a good analgesic effect.

RESEARCH BIBLIOGRAPHY

1996
Bakker E Van der Weilen MJR Voorhoeve E Ippel PF Padberg GW Frants RR Wijmenga C Diagnostic, predictive and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J Med Genet 33:29-35 (1996)

Clark LN Koehler U Ward DC Wienberg J Hewitt JE Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family. Chromosoma 105(3):180-9 (Sep 1996)

Coelho PC Morgado F Reis P de Queiroz MV Facioscapulohumeral dystrophy with myositis associated with rheumatoid arthritis. Clin Rheumatol 15(2):185-8 (Mar 1996)

Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining. Neurology 46 (3): 810-814 (Mar 1996)

Deidda G Cacurri S Piazzo, Felicetti L Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33(5):361-5 (May 1996)

Faustmann PM, Farahati J, Rupilius B, Dux R, Koch MC, Reiners C Cardiac involvement in facio-scapulo humeral muscular dystrophy: a family study using Thallium-201 single-photon-emission-computed tomography. J J Neurol Sci 144 (1-2): 59-63 (Dec 1996)

Grewal PK, Van Deutekom JC, Frants RR, Hewitt JE A search for genes in the facioscapulohumeral muscular dystrophy region. Biochem Soc Trans 24 (2): 282S (May 1996)

Ichikawa Y Yamada H Motoyoshi Y Shimizu T Kawai M [Abnormal head drooping in facioscapulohumeral muscular dystrophy] Rinsho Shinkeigaku 36(3):503-6 (Mar 1996)

Isozumi K, DeLong R, Kaplan J, Deng HX, Iqbal Z, Hung WY, Wilhelmsen KC, Hentati A, Pericak-Vance MA, Siddique T Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Hum Mol Genet 5 (9): 1377-1382 (Sep 1996)

Kaneko K Ohnishi Y Atsumi T Hozumi I Miyatake T On the heterogeneity of neurogenic facioscapulohumeral muscular atrophy [letter; comment] Muscle Nerve 19(4):533-5 (Apr 1996)

Kohler J Rupilius B Otto M Bathke K Koch MC Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis. Hum Genet 98(4):485-90 (Oct 1996)

Mathews KD, Mills KA The molecular genetics of human facioscapulohumeral muscular dystrophy and the myodystrophy mouse model. Curr Opin Neurol 9 (5): 394-399 (Oct 1996)

Nakagawa M Higuchi I Yoshidome H Isashiki Y Ohkubo R Kaseda S Iwaki H Fukunaga H Osame M Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality. Acta Neurol Scand 93(2-3):189-92 (Feb-Mar 1996)

Reimers CD, Schlotter B, Eicke BM, Witt TN Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature. J Neurol Sci 143(1-2):46-56 (Nov 1996)

Song MD Arahata K [Gene hunting of facioscapulohumeral muscular dystrophy] No To Shinkei 48(4):307-13 (Apr 1996)

Tawil R Forrester J Griggs RC Mendell J Kissel J McDermott M King W Weiffenbach B Figlewicz D FSH- DY Group. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 39(6):744-48 (1996)

Tupler R Berardinelli A Barbierato L Frants R Hewitt JE Lanzi G Maraschio P Tiepolo L Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 33(5):366-70 (May 1996)

Twyman RS Harper GD Edgar MA Thoracoscapular fusion in facioscapulohumeral dystrophy: clinical review of a new surgical method. J Shoulder Elbow Surg 5(3):201-5 (May-Jun 1996)

Ueyama H Kumamoto T Mita S Kimura E Nakagawa M Uchino M Ando M Facioscapulohumeral muscular dystrophy with chromosome 9p deletion Neurology 46(2):566-9 (Feb 1996)

van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJ, Howeler CJ, Jennekens FG, Jongen P, Oosterhuis HJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, Bakker E, van Ommen GJ, Bolhuis PA, de Visser M The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands Brain 119 ( Pt 5): 1471-1480 (Oct 1996)

van Deutekom J C T Lemmers R J L F Grewal P K van Geel M Romberg S Dauwerse H G Wright T J Padberg G W Hofker M H Hewitt J E Frants R R. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 5(5):581-591 (May 1996)

van Deutekom JC Bakker E Lemmers RJ van der Wielen MJ Bik E Hofker MH Padberg GW Frants RR Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1 Hum Mol Genet 5(12):1997-2003 (Dec 1996)

Winokur ST Bengtsson U Vargas JC Wasmuth JJ Altherr MR The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region. Hum Mol Genet 5(10):1567-75 (Oct 1996)

1997
A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group. Neurology (1997 Jan) 48(1):38-46

Fisher J Upadhyaya M Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord 7(1):55-62 (Jan 1997)

Fowler WM Jr, Abresch RT, Koch TR, Brewer ML, Bowden RK, Wanlass RL Employment profiles in neuromuscular diseases. Am J Phys Med Rehabil 76(1):26-37 (Jan 1997)

Grewal PK, van Deutekom JC, Mills KA, Lemmers RJ, Mathews KD, Frants RR, Hewitt JE The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mamm Genome 8(6):394-398 (Jun 1997)

Hsu YD, Kao MC, Shyu WC, Lin JC, Huang NE, Sun HF, Yang KD, Tsao WL Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan J Neurol Sci 149 (1): 73-79 (Jul 1997)

Milanov I, Ishpekova B Differential diagnosis of scapuloperoneal syndrome. Electromyogr Clin Neurophysiol 37(2):73-78 (Mar 1997)

Nakagawa M, Matsuzaki T, Higuchi I, Fukunaga H, Inui T, Nagamitsu S, Yamada H, Arimura K, Osame M Facioscapulohumeral muscular dystrophy: clinical diversity and genetic abnormalities in Japanese patients. Intern Med 36(5):333-339 (May 1997)

Ohya K Tachi · Kozuka · Kon S Kikuchi K Chiba S Detection of the mutation in facio-scapulohumeral muscular dystrophy patients. Acta Paediatr Jpn 39(1):92-6 (Feb 1997)

Tawil R McDermott MP Pandya S King W Kissel J Mendell JR Griggs RC A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology 48(1):46-9 (Jan 1997)

Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 34(6):476-479 (Jun 1997)

Winokur ST Bengtsson U Vargas JC Wasmuth JJ Altherr MR The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region. Hum Mol Genet 6(3):502 (Mar 1997)

ALTHERR LAB NEEDS HELP

I would like to discuss research opportunities in my laboratory with individuals interested in studying the molecular biology of FSHdystrophy. I am primarily interested in individuals looking for post doctoral research opportunities. However, I would also be willing to discuss graduate school opportunities for individuals looking for an interesting thesis topic. Please feel free to contact me, Michael R. Altherr, at (505) 665-6144 or e-mail at ALTHERR@LANL.GOV

MEET THE FSH SOCIETY BOARD AND SCIENTIFIC ADVISORY BOARD*

(*Denotes member of Scientific Advisory Board)
Michael Altherr, Ph.D.*
Michael Altherr, Ph.D., is a member of the Scientific Advisory Board and a staff scientist at the Los Alamos Laboratory as well as assistant researcher at the Department of Biological Chemistry at the University of California, Irvine, CA. Dr. Altherr is involved with FSHD research and has published papers with Drs. Weiffenbach, Griggs, and Jacobsen, among others.

Robert H. Brown, Jr., M.D., D. Ph., Board Member*
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 Laboratory 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. With Dr. Brown's consultation and assistance, the Society successfully organized the 1997 Scientific Conference on FSHD.

Rune Frants, Ph.D.*
Dr. Frants' research group at Leiden University, The Netherlands, has been at the leading edge with studies toward mapping and cloning of the FSHD gene and developing diagnostic tests. Serving on the Faculty of Medicine, Section of Human Genetics, Dr. Frants chaired the Panel Discussion on Molecular Diagnostic Testing in FSHD at the 1997 Scientific Conference on FSHD.

Robert C. Griggs, M.D.*
Dr. Griggs is currently chairman of the Department of Neurology as well as chief neurologist at the University of Rochester Medical Center, University of Rochester School of Medicine and Dentistry, Rochester, NY. Under Dr. Griggs' direction, the natural history study for FSHD is currently at the University of Rochester, NY. Dr. Griggs' area of interest is in the molecular biology of FSHD with particular emphasis on genotype/phenotype correlation as well as the experimental therapeutics for FSHD including the current Albuterol trial. Dr. Griggs served on the organizing committee for the International Scientific Conference and played a major role in assuring that the scientific conference would be in conjunction with the American Academy of Neurology meeting.

Lady W. Hall, Board Member
Lady W. Hall is active in community and church affairs. A graduate of Louisiana State University, she lives in DeRidder, LA. She is dedicated to informing the public on FSHD issues as a concerned parent and FSHD patient.

William E. Hall, Jr., J.D., Board Member
Judge William E. Hall, Jr. is a practicing attorney and Senior Partner with Hall, Lestage, and Landreneau in LA. Active in pursing 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.

David A. Housman, Ph. D.*, Chair,
Scientific Advisory Board
Dr. Housman is a Professor, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA and Associate in Neurology and Genetics at Massachusetts General Hospital, Boston. On the Boards of the Hereditary Disease Foundation, National Center for Human Genome Research of the National Institutes of Health, as well as the Scientific Advisory Board of the FSH Society. Dr. Housman has published extensively on genetic research in myotonic dystrophy, Huntington's disease and is an expert in DNA positional effects.

Stephen J. Jacobsen, Ph.D., Vice President*
Dr. Jacobsen is Vice President of our Society and Chair 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 an association that would advocate for FSHD resources. Dr. Jacobsen currently resides in San Diego, CA, where he is the Director of our West Coast office.

Karen L. Johnsen, Board Member
Currently a continuing education college student, Ms. Johnsen has been the leader of the Mid-Atlantic FSH Society Support Group in Maryland for the past seven years. Ms. Johnsen, the former Miss Wheelchair Maryland, is in contact with the public on disability issues. Her mission in the FSH Society is to promote public awareness of FSHD issues.

Louis Kunkel, Ph.D., Board Member*
Dr. Kunkel is Chief of the Division of Genetics at The Children's Hospital, Boston and serves on the FSH Society's Scientific Advisory Board. As an 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, Secretary
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 recently retired from his position as the Group Vice President for Quorum Health Resources, the world's largest organization that manages and operates hospitals. As an FSHD patient, he is interested in expediting a solution to the FSHD problem. Mr. Lefebvre is Chair of the FSH Society Fundraising Committee.

William R. Lewis, M.D., Board Member*
A member of our Scientific Advisory Board, Dr. Lewis, a practicing neurosurgeon in Monterey, CA, has a special interest in FSHD since he has children with this diagnosis.

William R. Lewis, III, M.D., Board Member*
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 FSHD, Dr. Lewis is committed to the activities of our Society. Dr. Lewis works closely with the University of California, Davis Department of Physical Medicine and Rehabilitation to expand the FSH Society web site that is part of a NIDRR training grant for neuromuscular disorders.

William G. Michael, CPA, Treasurer
As the 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 FSHD.

Theodore L. Munsat, M.D., Board Member*
Dr. Munsat serves on our Scientific Advisory Board. A past president of the American Academy of Neurology, and past chairman of the 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. With Dr. Munsat's support and commitment, the 1997 International Scientific Conference on FSHD was accomplished.

George Padberg, M.D., Ph.D.*
Since 1980, Dr. Padberg has studied FSHD and researched this disorder leading to significant progress in the clinical and molecular aspects of FSHD. Dr. Padberg, Professor and Chair, Department of Neurology, University Hospital Nijmegen, the Netherlands presented the "Epidemiology and Non-Neuromuscular Aspects of FSHD" at the International Science Conference in Boston.

Daniel Paul Perez, President*
Founder and President of the FSH Society, Daniel Paul Perez is a graduate of Harvard College. He is currently a Senior Scientific Programmer working on the Human Genome Project in the Bioinfomatics Department at a functional genomics company in Massachusetts. Mr. Perez's dedication to founding the Society began when he met Dr. Stephen Jacobsen in 1989. With Daniel Perez's hard work in developing the by-laws of the Society, incorporating our organization as a nonprofit corporation, organizing the Board of Directors, the FSH Society has become a viable force for information, advocacy and a clearinghouse for research on FSHD. The FSH Watch, the Society's newsletter published twice a year, has become recognized worldwide for its excellence in providing current research updates for professionals, researchers, patients, families and treating clinicians. Mr. Perez has testified before Congressional Committees seeking funding for FSHD research and met with the heads of the National Institutes of Health to bring the 1997 International Scientific Conference on FSHD into reality.

Paul Schultz, M.D., Board Member*
Founding member of the FSH Society, and member and former chairman of the Scientific Advisory Board, Dr. Schultz is the Director of the Muscle Disease Clinic of Children's Hospital, San Diego, CA. As clinical professor of neuroscience 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.

Rabi Tawil, M.D.*
Dr. Rabi Tawil is currently Assistant Professor, Department of Neurology at the University of Rochester Medical Center, University of Rochester School of Medicine and Dentistry, Rochester, NY. Under Dr. Tawil's direction, the natural history study for FSHD is currently at the University of Rochester, New York. Dr. Tawil's area of interest is in the clinical manifestations and the molecular biology of FSHD as well as the experimental therapeutics for FSHD including the current Albuterol trial. Dr. Tawil was the principal investigator for the FSH Society's 1997 scientific conference on FSHD.

Barbara Weiffenbach, Ph.D.*
Dr. Weiffenbach is currently research manager at Genome Therapeutics in Waltham, MA. Dr. Weiffenbach and Dr. Jacobsen began the original research to develop the cell bank for FSHD. Dr. Weiffenbach has continued this research under a grant from the National Institutes of Health. As a member of the organizing committee of the 1997 Scientific Conference on FSHD, Dr. Weiffenbach chaired the session on studies toward mapping and cloning the FSHD gene. Dr. Weiffenbach is the author of many scientific publications on the FSHD gene, linkage analysis, mapping, and sequencing of chromosome 4. She has co-authored papers with Drs. Altherr, Jacobsen, Tawil, Figlewicz and Griggs, among others.

Morgan Downey, J.D.,
FSH Society General Counsel
The general counsel to the FSH Society is 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.

Carol A. Perez, M.Ed., C.R.C.,
FSH Society Executive Director
An experienced administrator and counselor in rehabilitation, Ms. Perez has served as Coordinator and Executive Director of the FSH Society since 1992. Initiating the New England FSHD Support Group in 1989, her dual role as both service provider and consumer serves to fuel her activism to advocate for the FSHD community in all areas.

MEET . . . CYNTHIA GILMAN

For as long as I can remember, I thought something was wrong with me. There was an oddity to my gait and weakness in my facial muscles. I also had problems with my shoulders and couldn't raise my arms to more than a 45 degree angle. I compensated by throwing my arms backwards then forwards to reach things. As time went on, walking became more difficult and my gait problems became very noticeable. I was concerned and embarrassed since I would fall for no apparent reason. My parents asked why I walked the way I did and the pediatrician told them I would outgrow it.

In the fall of 1982, I finally got up the courage to find a doctor who would "fix" my problem. Unfortunately, I learned it not only couldn't get fixed, but was going to get worse. After a brief examination by a neurologist, he told me I had muscular dystrophy. I laughed at him because it seemed so outrageous but I left his office in tears none the less.

My parents wanted to help and be supportive, but they were in shock and needed their own support system. When I was diagnosed with this serious illness, each of my family members had to develop their own coping mechanism. My mother describes her first reaction as devastation. My father felt as sorrowful as my mother, but he just wanted me to deal with it, accept it and get on with my life. He knew how hard it was for me. I was truly devastated and thought my life was over. I was in total shock and felt as if there were a giant, black cloud that loomed ominously over my head.

I thought no one could possibly understand what I was going through so I kept all of my fears to myself. I shut everyone out and lived in a "glass house," viewing the world from my self-imposed prison. I felt like I had received a death sentence. Actually, nothing worsened for me physically for quite some time after the initial diagnosis. I just now had a name for my "problem."

When my daughter, Kelly, was six years old, I took her with me to the Muscular Dystrophy Association (MDA) clinic for my appointment. Seeing people that were so much worse off physically than I terrified me. I didn't realize at the time that there were different types of MD. Kelly sensed my concern and asked why I was sad. I explained the situation to her in terms that a six year old could understand. She was so loveable and, as only a child could, told me, "It's OK to be different, just like snowflakes." Those sweet words will never leave my memory.

My son, Daniel, was about five when he asked why I "walked funny." I explained it to him and he wanted to know if it would get worse. I still get a lump in my throat thinking about that night. I can still see the look on his face and the tears on his little cheeks. He said he would find a cure someday and would always take care of me if I "got sick." He said it was the first time he had ever been "really, really sad."

In the summer of 1986, my family went to the University of Southern California Neuromuscular Center. My father wanted to go so we could feel confident that we had done everything possible. Although I knew better, deep in my heart I still had a glimmer of hope that this highly respected doctor could "fix" my problem. We were told that both my sister and I had a type of muscular dystrophy called Facioscapulohumeral Muscular Dystrophy (FSHD). I asked how bad it would get, and the doctor tried to put it in perspective for me by saying that I had the disease since birth and this was how much it had progressed in 30 years. The doctor recommended that I have a brace made to compensate for foot drop, but I thought I would rather die than wear braces and refused to discuss it.

By the summer of 1992, I knew something had to be done. My coping skills were diminishing and I was depressed. My knees hurt so bad I couldn't walk and my hips hurt so much at night that I'd wake up crying. I checked myself into a pain management clinic at the recommendation of the MDA staff doctor. For six weeks I had physical therapy, biofeedback therapy and extensive psychotherapy for pain management and relaxation. I also had numerous cortisone injections in my back, knees and hips. The time had come to face the fact that I needed to wear braces on both legs since the gait problems had created additional problems. Again, I thought my world had come to an end. I felt embarrassed wearing the braces and having to use a crutch.

I now realize that my kids take their cue from me as to how to behave and deal with the changes that are taking place. I enhance any negative feelings they have by my own negativity toward the situation. There have been many times the kids have seen me cry or heard me express my frustration not only in regard to what I am and am not capable of doing, but of how I look. I get upset at things like having to wear sneakers with a dressy outfit or not wanting the braces to show and wearing long pants when it is 90 degrees in the shade. It became time for me to take a hard look at myself—if not for me, then for my children.

Coping is difficult when faced with a degenerative disease because there are always new challenges and plateaus to conquer as the condition worsens. I'm in a constant state of adjustment. When walking became painful, I finally relented and got a handicap sticker for my car. I knew it would be helpful, yet it represented another level of deterioration and the reality of it hit me hard. I remember when I said I would rather die than wear braces. I wear them now and I'd rather not be dead. I said I would rather not go anywhere than have to ride an electric scooter, but I do and I am no longer restricted as to where I can go. I can't believe the comments I hear from some people. Many times I have had complete strangers say to me, "Oh, my feet are killing me! You're so lucky." when they see me riding the scooter. I usually respond by saying, "Of course, I'd much rather be unable to walk and have this luxury."

There are still times when I feel scared of what might happen to me in the future, but if I want to enjoy life, I need to focus on today. I can't do anything about the past and I have no control over the future. I can only be concerned with the present. Someone once told me it's called the 'present' because it is a gift. The key is to find acceptance and ways of dealing with the reality of having FSHD. I find it frustrating at times, and it can be a lonely experience, but the grieving is long over.

The thing that has helped me the most in dealing with having FSHD is meeting others with FSHD and sharing similar experiences. I urge all of you to join the FSHD Online Support Group, an interactive discussion group whose goal is to share information, ideas, lend support and make friends who truly understand what we face on a daily basis.

Another matter of great importance is urging everyone you know to become a member of the FSH Society. When I say everyone, I mean your family, friends and neighbors. The only way to find a cure is to become pro-active and be supportive of the Society's efforts. Please, do it for yourself, your children and grandchildren. _______________________
Cindy Gilman, 10186 Balsa Way, Palm Beach Gardens, FL 33410 · 561-626-8867 Note: Cindy Gilman organized and facilitates the FSHD ONLINE chatroom where FSHDers world-wide meet to share interests and ideas. It is an open and non-restricted support group. Although this is not an FSH Society-sponsored group, nor is it affiliated or endorsed by the Department of Physical Medicine and Rehabilitation at U.C. Davis, instructions to join this group can be found on the FSH Society page at disability.ucdavis.edu/fsh or contact Cindy at SindyFL@aol.com.

FSH SOCIETY GROUPS WELCOME NEW MEMBERS AND OFFER NEW RESOURCES

The following support groups: Gulf Area (Alabama, Louisiana and Mississippi), Michigan, Mid Atlantic, New England, South Central Pennsylvania, and Tri State (New York Area) offer the unique opportunity to meet others and share information and support on FSHD issues. Meetings are generally held every other month 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 for FSHD. Individuals, family members and professionals concerned with FSHD are welcome to attend.

We are pleased to welcome our newest group, the Gulf Area (Alabama, Louisiana and Mississippi) FSH Society Support Group currently meeting in Biloxi, Mississippi. John Kirtz and Renee Brown are actively recruiting interested individuals for the Chicago area (Illinois, Indiana and Wisconsin). Please contact John Kirtz at 312-563-9914 for more information.

Please call Carol Perez, FSH Society Director, East Coast Office, 617-860-0501, with any questions or interest in forming a local group, telephone network or pen pal group. In order to preserve confidentiality, the FSH Society will contact members and inform them of groups in their areas. We have requests to form groups in Phoenix, AZ; San Diego, San Francisco and Los Angeles, CA; Denver, CO; Palm Beach, FL; Duluth, MN; Kansas City and St. Louis, MO; and Rochester, NY. Information about support groups and networks is published in the FSH Watch.

Realizing that our network is far-flung, we have introduced new services:

Videotapes of selected meetings from the Mid Atlantic FSHD Support Group and New England FSHD Support Group are available on loan ($3.00 postage charge per tape). Tapes currently available include presentations on physical therapy, occupational therapy, massage therapy and a discussion with a physician. Contact Carol Perez, East Coast Office of the FSH Society for further details. We are grateful to Karen Johnsen and Robert Smith for making these materials available.

We have formed a pen pal network for our children. Anyone interested may contact Carol Perez or Mary Redick, 715-426-9986, for the name, age, and address of those involved. Please let us know if you would be interested in receiving correspondence.

We have formed a pen pal network for our teens. Anyone interested may contact Karen Johnsen, 301-262-0701 for names of those interested in receiving correspondence.

Dean Johnsen, 301-262-0701, is coordinating a Support Network for the Partners and Family Members of individuals with FSHD. This group was formed as a result of the 1997 FSH Society Network Conference.

* Groups meet in accessible locations.

FSH Society Infantile Facioscapulohumeral (IFSHD) National Network: Mary Redick, W11149 County Road M, River Falls, WI 54022 (715-426-9986), coordinates the Infantile Facioscapulohumeral and early onset IFSHD National Network that continues to grow and reach out across the continents. One of the goals in forming this network is to address the unique needs of parents and children living with IFSHD. The Society would like to develop a resource list of those families willing to exchange information about IFSHD and early onset.

Gulf FSHD Support Group
Ann Biggs-Williams, (334-867-2445), founding member of the FSH Society, leads the Gulf Group that meets in Biloxi, MS, and includes Alabama, Mississippi, and Louisiana. Ms. Biggs-Williams, a college librarian, established contact with the English FSHD Work Group when she was a graduate student in the United Kingdom.

Illinois FSHD Support Group
John Kirtz, (312-563-9914), and Renee Brown co-lead the Illinois FSH Society Support Group that includes Illinois, Indiana, and Wisconsin. John and Renee are planning an exciting year for our newest group. Please call John for details on the fall meetings.

Michigan FSHD Support Group
James Partridge and Linda Shain Vanek, (313-663-2093), co-lead the Michigan FSH Society Support Group that includes Indiana, Michigan, and Ohio. Meeting since 1995, this group welcomes your participation. Mr. Partridge, a lawyer, and Ms. Shain Vanek, a social worker, were profiled in the FSH Watch, Vol. 3, No. 2.

Mid Atlantic FSHD Support Group
Karen Johnsen, (301-262-0701), has led the Mid Atlantic FSHD Support Group that includes Maryland, Virginia, Washington, D.C., Delaware, and Pennsylvania since 1990. The group alternates presentations and open discussion every other month. Ms. Johnsen is a board member of the FSH Society.

New England FSHD Support Group
Since 1989, Carol Perez, (617-860-0501), has facilitated the New England FSHD Support Group that covers Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island, and Vermont and meets in Waltham, MA five times a year. The New England group members hosted the 1997 FSH Society Network Day. Ms. Perez is Executive Director of the FSH Society.

South Central Pennsylvania FSHD Support Group
The South Central Pennsylvania FSHD Support Group, coordinated by Ranae Beeker, (717-632-4803), welcomes your participation. Ranae Beeker, a nurse, is also a member of the Mid Atlantic group and brings a wealth of material and information to the group as both professional and patient.

Tri State (New York) FSHD Support Group
Marilyn Meisel, (718-357-5079), established this group in 1994. Meisel, a social worker and the daughter of one of the founding families of the MDA, has been profiled in the FSH Watch. The Tri State (New York area) FSHD Support Group members come from New York, New Jersey, and Connecticut and meet in Queens, New York. The Tri-State group meets every other month.

FSHD Chatroom in Cyberspace
Cynthia Gilman, FL, has taken the lead and created a chat room for "FSHers." It is an open, non-restricted support group. It is not an FSH Society sponsored group, nor is it affiliated or endorsed by the Department of Physical Medicine and Rehabilitation of U.C. Davis. If you need any additional information or have any questions, please contact Cyndy at SindyFL@aol.com.

More than seventy people with FSHD now meet weekly with speakers, topics and open discussions. The Society is indebted to Cyndy for creating a place where people from New Zealand, Greece, Florida and all parts of the world meet to become friends and break through the sense of isolation often encountered with FSHD. Cyndy is profiled in this FSH Watch on page 27.

Internet UC Davis (http://disability.ucdavis.edu/fsh)
Marylou Brewer and Ted Abresch at the University of California, Davis, coordinate the FSH Society site on the Internet through a grant from the National Institute on Disability & Rehabilitation Research (NIDRR). The FSH Society has more than 3,000 hits weekly from all over the world. The FSHD site contains the publications of the Society (including the FSH Watch), updates and a bulletin board for information exchange. In addition, the Physical Medicine and Rehabilitation Department under Dr. W. M. Fowler, Jr. has the NIDRR research and training grant for neuromuscular disorders. Profile on FSHD (a ten-year study of FSHD patients) has been published in the FSH Watch.

FSH Society Networks Contacts—North America

Colorado: Duane Dotson, 303-426-9180

Canada: Rosanna Mossa, 29 Robaldon, Etobicoke, Ontario, M9A 5A8

International FSH Society Network Contacts

Belgium: Ms. Denyse Bourgeois
Rue de Blanc Bois #2, 1360
Perwez, Belgium
Update: The Belgian group represents all neuromuscular disorders and meets annually. Their publications are in French.

Canada: Rosanna Mossa
29 Robaldon,
Etobicoke, Ontario, M9A 5A8
Update: FSH Society Network Coordinator for Canada

James & Linda Dobson
Society for Muscular Dystrophy
Information International (S.M.D.I.)
P.O. Box 479, Bridgewater, Nova Scotia
Canada B4V 2X6
Phone: 902-685-3961 Fax: 902-685-3962
Update: The S.M.D.I. International Newsletter and Access-Able Information are published quarterly. The newsletter provides an international forum for disorder/disability information, news and opinion relevant to the field of neuromuscular disorders. The summer 1997 Access-Able Information article on pain by Richard Robinson with reference to FSHD is excerpted in this FSH Watch on page 21.

England: Mrs. Lorraine Jonas, Secretary FSHMD Support Group, 2, Hamlyn Close,
Edgware, Middlesex, HA8 8DB, England
Phone: 0181-958-788 Fax: 0181-958-2198
E-Mail: nmj@brockley.telme.com
Update: Gordon Nutter is the new Chairman of the FSHMD Support Group whose Annual Group Meeting (AGM) is scheduled for October 18, 1997, at the William Merritt Disabled Living Centre in Leeds to review available equipment. Your participation is welcomed. Please contact Lorraine Jonas for additional details.

France: Ms. Catherine
LHeureux-Rouslin 16, Rue du Parc
Royal,75003 Paris, France
Update: Jon Andoni Urtizberea, M.D., Director AFM presented the results of the French Survey at the FSH Society Conference in April, 1997.

Netherlands: Mr. Albert Gielis, FSHD
working group C. Beerninckstraat 102,
3641 DE Mijdrecht, The Netherlands
Update: The abstract of the study of pain related to FSH dystrophy appears in this newsletter on page 21. Miranda Vashtal, Diagnostic Support Group for FSH Dystrophy, VSN requested publication of these results in the FSH Watch with the hope that worldwide, among FSHD patients and experts, there will be more attention for pain experienced by the FSHD patients.

FSH WORLD WIDE WEB/INTERNET UPDATE

http://disability.ucdavis.edu
We are pleased to announce that the home page of the FSH Society and that of the Research and Training Center for Neuromuscular diseases at UC Davis has been awarded the hot Medsite award for June, 1997. Medsite is an information tool for students, researchers and health care professionals enabling them to find out the latest news and data on the most important issues that face the medical industry.

Both the amount of traffic and information on the home page has increased substantially. Information on the FSHD page includes the following topics:

Information on an IRC Society FSHD channel, a chat room for people with FSHD

FSHD Bulletin Board

Request 1997 FSH Society Membership Materials

FSH Watch: Vol. 3, No. 2, Winter 1997

The FSH Society 1997 Membership Application

The FSH Society and FSHD Read This First

FSH Watch: Vol. 3, No. 1, Spring 1996

FSH Watch: Vol. 2, No. 2, Fall 1995

FSH Watch: Vol. 2, No. 1, Spring 1995

FSH Watch: Vol. 1, No. 2, Fall 1994

FSH Watch: Vol. 1, No. 1, Spring 1994

FSH Research Update

The UC Davis Research and Training Center for Neuromuscular Diseases has set up an information database for individuals with neuromuscular diseases. The following information is provided on FSHD in this database:

Brief Overview Facioscapulohumeral Muscular Dystrophy

Current Research on FSHD

Frequently Asked Questions

Genetics

Natural History of FSHD

Personal Accounts of FSHD

Related Organizations

Detailed medical information on FSHD from the National Center for Biotechnology Information

RESULTS OF A FRENCH SURVEY OF INDIVIDUALS WITH FSHD

By Dr. J. Andoni Urtizberea, M.D. On April 13, 1997, Dr. J. Andoni, Urtizberea, M.D. presented the survey "Evaluation of Socio-Familial and Clinical Status in Facio-scapulo-humeral Muscular Dystrophy: Results of a Survey of 270 French Patients" at the FSH Society Network conference in Waltham, MA. the following excerpts are printed with permission of the AFM.
A survey of facio-scapulo-humeral muscular dystrophy (FSHD) patients was designed to reveal various aspects of this disorder, as experienced directly by the affected individuals. In addition to our questions on the medical status (diagnosis, functional impairments, pain and treatment), our questionnaire included questions on psychological and social aspects of this disease. Our questionnaire was returned by 270 individuals representing 10 percent of the patients affected by this disorder in France. Our results confirm findings reported in the literature concerning the age at onset (between age 10 and 20), the nature of the functional impairments, therapeutic management (notably physical therapy) and the lack of influence of the disease on childbearing. On the other hand, our results differ from previous studies in terms of (1) patient reactions to the disclosure of the diagnosis, which was said to be usually received calmly by the patient and did not systematically lead to emotional trauma, (2) less homogeneity in functional impairments: we found two subgroups of different severity: the most severely affected group, which represented around 25 percent of our subjects, was wheelchair-bound, (3) pain, which was mentioned by over half the patients, and (4) professional status: 37 percent of the patients were employed. Finally, although no major psychological problems were found, comments by the respondents demonstrated a tendency to a "melancholiform" type of existence.

Discussion
The 270 French FSHD patients enrolled in this study mainly originate from a patient support group and that probably results in a little bias especially in terms of severity of the disease. Our guess is that FSHD patients who are only slightly affected do not necessarily have the idea or the desire to join a patient's support group. Nevertheless, the relatively large size of the sample (around 10% of the overall estimated population of French FSHD patients) and the customer-oriented methodology provide a great deal of valuable data regarding daily life in these patients.
Our study confirms several points already mentioned in the literature:

1. The familial nature of the disease: 63% know of at least one other affected person in their family whereas 30% do not know of any affected relatives (Padberg found 26% who did not know of affected relatives in 1994)

2. Early symptoms: the onset is noticed between 10 and 20 years of age, with females more likely (16%) to note the appearance of the first symptoms before age 10. Similar findings were reported by Chung and Morton (1959). Unfortunately, the way our questionnaire was designed prevents us from detecting any anticipation.

3. The frequent lack of recognition of early facial symptoms of FSHD by the patients as noted by Walton (1955) and Padberg (1982).

4. Childbearing: The average number of children was 1.58 compared with a national average of 1.78 in France. The age at the first pregnancy was between 20 and 25 years, and the last pregnancy between 27 and 32. These figures do not differ significantly from French population data (INSEE. 1996), and do not seem to be significantly influenced by the disease.

5. Opinions about prenatal diagnosis: the majority of individuals (60%) are favorable, 5% are against, and 18% are undecided. These results are in agreement with those of Passos-Bueno and Zatz (1993). At the time of the survey, no prenatal diagnosis was available in France.

6. The functional effects: FSHD affects the scapular girdle, but also the pelvic girdle, in over half the cases. More than 20% of the patients have a limited mobility and require technical devices.

7. Therapeutic management almost always includes physical therapy, which attempts to prevent contractures, and provides comfort.

8. More than a third of these patients are employed with a maximum of 50% in the labor force in the 30-40 year age group.

Conversely, this survey partially contradicts the results of previous studies and provides new data on the following:

1) Announcing the diagnosis:
Perception by the patients of the manner in which the diagnosis is presented appears to be satisfactory. This is probably because physicians generally take time to describe the disorder in all its aspects: symptoms, etiology, therapy, and prevention. Because of the non-lethal character of the disease, they are not hesitant about revealing the diagnosis, as they are with other diseases such as multiple sclerosis (Delaporte, 1994).

Reactions involving immediate painful emotional reactions upon hearing the diagnosis (42.5%) partially confirm the literature on the subject (Delaporte, 1994). In fact, 46% of the subjects indicated emotional reactions which were positive or "trivial" ("surprise," "satisfaction at having a diagnosis," "normal" reaction). These results seem to contradict the data in the literature, in which traumatic reactions were frequently reported when the diagnosis was announced (shock, "depressive state constantly found") (Delaporte, 1994). However, these discrepancies may partly be due to age differences in the study groups. The group studied by Delaporte was composed of younger patients (all below 50 years of age) and the time interval between the diagnosis and enrollment in the survey was less than 10 years. In our group, which was older on the average (mean of 45 years), and selected for membership in a patient's support group, the diagnosis was made a longer time ago and the patients were more distanced from the emotional impact of this revelation. Our group has had time to make a long-term social and psychological adjustment to their disorder, unlike the patients reported by Delaporte. In spite of these drawbacks based on the retrospective nature of the patients' memories about the moment they learned their diagnosis, we believe that the non-painful nature of the emotional reaction is plausible because of the familiar nature of the disorder. This probably led to a prior psycho