Oculopharyngeal muscular dystrophy (OPMD, OMIM 164300) fits the description of a neglected condition as described in the CMAJ editorial by Kelsall.1
This condition has escaped attention in many medical school and resident teaching curricula despite having an unusually high prevalence in those with Quebec French–Canadian ancestry. This is due to a founder effect. A mutant trinucleotide repeat expansion allele was introduced by three emigrant French sisters in 1648.2 The most common disease manifestations are dysphagia, ptosis and limb weakness, with symptoms usually appearing in the fifth decade. The disease often goes undiagnosed when referral for dysphagia, which can be severe, is made. A label of myasthenia gravis is occasionally incorrectly applied as well. Treatment can be difficult, but is available for both dysphagia and ptosis. Counselling patients on the hereditary nature of this condition (autosomal dominant) frequently results in identification of additional affected family members.
Greater awareness would improve diagnosis and mitigate the unnecessary investigation that frequently occurs, including repeated upper endoscopy. A Scottish study showed a 3-to-20-year delay from symptom onset to diagnosis, with a quarter of patients with dysphagia having undergone a decade of investigation and treatment for pharyngeal problems.3 The findings are congruent with the experience shared by many who manage these patients. Because patients of Quebec French–Canadian ancestry represent one of the world’s most prevalent OPMD carrier groups, this disease should receive more attention in our country.
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