Israel Medical Association Journal

Since the horrific terrorist attacks of 7 October 2023 in Israel perpetrated by the Hamas terrorist group and the ensuing Iron Swords war, there has been another war raging in prominent medical journals in the form of editorials and letters to the editor. Multiple publications filled with misinformation and propaganda have questioned Israel’s right to defend herself, have implicitly or explicitly provided justification for the terror, and have even questioned the legitimacy of Israel’s existence. Rather than serve as a source of frustration and despondency due to abandonment by our colleagues, we believe this situation should serve as a call to action. Israeli physicians cannot afford to passively cede the arena of political advocacy to parties with anti-Israel and even antisemitic bias. Doing so would be devastating to Israeli medicine and to the quality of care we deliver to our patients.

Objectives: To describe the phenotypic and genotypic features in five 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 identified five 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 influence the OPMD phenotype. OPMD is a rare disease, and the identification of five 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.