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

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Journal of Genetic Counseling

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.

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Authors and Affiliations

  1. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel

    Miri Yanoov-Sharav, Chana Vinkler, Marina Michelson & Dorit Lev

  2. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel

    Miri Yanoov-Sharav, Esther Leshinsky-Silver, Chana Vinkler, Marina Michelson, Tally Lerman-Sagie, Mira Ginzberg & Dorit Lev

  3. Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel

    Esther Leshinsky-Silver & Sarit Cohen

  4. Department of Neurology, Wolfson Medical Center, Holon, Israel

    Menahem Sadeh

  5. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Esther Leshinsky-Silver, Tally Lerman-Sagie, Menahem Sadeh & Dorit Lev

Authors
  1. Miri Yanoov-Sharav
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  2. Esther Leshinsky-Silver
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  3. Sarit Cohen
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  4. Chana Vinkler
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  5. Marina Michelson
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  6. Tally Lerman-Sagie
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  7. Mira Ginzberg
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  8. Menahem Sadeh
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  9. Dorit Lev
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Correspondence to Dorit Lev.

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Yanoov-Sharav, M., Leshinsky-Silver, E., Cohen, S. et al. Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population. J Genet Counsel 21, 557–563 (2012). https://doi.org/10.1007/s10897-011-9422-5

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  • DOI: https://doi.org/10.1007/s10897-011-9422-5

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