Original Research

Journal of Genetic Counseling

, Volume 21, Issue 4, pp 557-563

Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population

  • Miri Yanoov-SharavAffiliated withInstitute of Medical Genetics, Wolfson Medical CenterMetabolic Neurogenetic Clinic, Wolfson Medical Center
  • , Esther Leshinsky-SilverAffiliated withMetabolic Neurogenetic Clinic, Wolfson Medical CenterMolecular Genetics Laboratory, Wolfson Medical CenterSackler Faculty of Medicine, Tel Aviv University
  • , Sarit CohenAffiliated withMolecular Genetics Laboratory, Wolfson Medical Center
  • , Chana VinklerAffiliated withInstitute of Medical Genetics, Wolfson Medical CenterMetabolic Neurogenetic Clinic, Wolfson Medical Center
  • , Marina MichelsonAffiliated withInstitute of Medical Genetics, Wolfson Medical CenterMetabolic Neurogenetic Clinic, Wolfson Medical Center
  • , Tally Lerman-SagieAffiliated withMetabolic Neurogenetic Clinic, Wolfson Medical CenterSackler Faculty of Medicine, Tel Aviv University
  • , Mira GinzbergAffiliated withMetabolic Neurogenetic Clinic, Wolfson Medical Center
  • , Menahem SadehAffiliated withDepartment of Neurology, Wolfson Medical CenterSackler Faculty of Medicine, Tel Aviv University
  • , Dorit LevAffiliated withInstitute of Medical Genetics, Wolfson Medical CenterMetabolic Neurogenetic Clinic, Wolfson Medical CenterSackler Faculty of Medicine, Tel Aviv University Email author 

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD), is a dominantly inherited, late onset, progressive disease. At present, no treatment or prevention of symptoms are available. There is considerable clinical variability, even within families. The gene whose defect causes FSHD has not been identified, but molecular diagnosis can be made by analyzing D4Z4 repeat length on chromosome 4q35. The results can support or rule out the clinical diagnosis of FSHD, but there are also “gray zone”, non-conclusive results. During the years 2000–6, 66 individuals (including 7 asymptomatic individuals), were tested in our institute for D4Z4 repeat number. In 77% of the cases the results were conclusive: two thirds of them supported a diagnosis of FSHD while in a third this diagnosis was ruled out. In 23% the results were in the gray zone. Cognitive involvement was rare, occurring only when the D4Z4 repeat size was very small (<15 kb). Maximal utilization of the existing molecular test for FSHD demands detailed clinical and family pedigree information. We recommend that comprehensive genetic counseling always be given before and after molecular testing for FSHD, in addition to the neurological follow-up. Presymptomatic testing should only be offered when complete molecular evaluation can be offered, including 4qA and 4qB variant analysis.

Keywords

FSHD (Facioscapulohumeral Muscular Dystrophy) Genetic counseling Presymptomatic testing