Oculopharyngeal muscular dystrophy among bulgarian jews: A new cluster?

Sergiu C. Blumen, Anat Kesler, Ron Dabby, Stavit Shalev, Morad Khayat, Yechoshua Almog, Joseph Zoldan, Felix Benninger, Vivian E. Drory, Michael Gurevich, Menachem Sadeh, Bernard Brais, Itzhak Braverman

Research output: Contribution to journalArticlepeer-review


Background: Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel. Objectives: To describe the phenotypic and genotypic features in fve Bulgarian Jewish patients, from different families, with autosomal dominant OPMD. methods: We performed clinical follow-up, electrodiagnostic tests and mutation detection. Blood samples were obtained after informed consent and DNA was extracted; measurement of GCG repeats in both PABPN1 alleles and sequencing of OPMD mutations were performed according to standard techniques. results: We identifed fve patients (four females), aged 58 to 71 years, with bilateral ptosis, dysphagia, dysphonia (n=3) and myopathic motor units by electromyography. In all patients we noticed proximal weakness of the upper limbs with winging scapulae in three of them. All cases shared the (GCG)13-(GCG)10 PABPN1 genotype. conclusions: OPMD among Bulgarian Jews is produced by a (GCG)13 expansion, identical to the mutation in Uzbek Jews and French Canadians. In addition to the classical neurological and neuro-ophthalmological features, early shoulder girdle weakness is common in Bulgarian Jewish patients; this is an unusual feature during the early stages of OPMD produced by the same mutation in other populations. We suggest that besides the disease-producing GCG expansion, additional ethnicity-related genetic factors may infuence the OPMD phenotype. OPMD is a rare disease, and the identifcation of fve affected families in the rather small Bulgarian Jewish community in Israel probably represents a new cluster; future haplotype studies may elucidate whether a founder effect occurred.

Original languageEnglish
Pages (from-to)748-752
Number of pages5
JournalIsrael Medical Association Journal
Issue number12
StatePublished - Dec 2013


  • Bulgarian jews
  • Genetics
  • Muscular dystrophy
  • Oculopharyngeal
  • Phenotype


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