1. Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population
- Author
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Sarit Cohen, Miri Yanoov-Sharav, Mira Ginzberg, Chana Vinkler, Dorit Lev, Marina Michelson, Menahem Sadeh, Esther Leshinsky-Silver, and Tally Lerman-Sagie
- Subjects
Male ,musculoskeletal diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Genetic counseling ,Population ,Genetic Counseling ,Asymptomatic ,medicine ,Humans ,Presymptomatic Testing ,Facioscapulohumeral muscular dystrophy ,Genetic Testing ,Israel ,Muscular dystrophy ,education ,Genetics (clinical) ,Genetic testing ,Genetics ,education.field_of_study ,medicine.diagnostic_test ,business.industry ,Sequence Analysis, DNA ,medicine.disease ,Muscular Dystrophy, Facioscapulohumeral ,Human genetics ,Pedigree ,Female ,Chromosomes, Human, Pair 4 ,medicine.symptom ,business - 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 (
- Published
- 2011