Hong Kong Med J 2013;19:556–9 | Number 6, December 2013
DOI: 10.12809/hkmj133739
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong
HM Luk, Ivan FM Lo, KH Fu, Colin HT Lui, Tony MF Tong, Daniel HC Chan, Stephen TS Lam
Clinical Genetic Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, Shamshuipo, Kowloon, Hong Kong
Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed disease, especially among the Chinese. In the presence of a positive family history and late-onset ptosis, dysphagia, and proximal muscle weakness (its cardinal features), we suggest that PABPN1 gene analysis should be the first-line investigation to rule out this condition. Muscle biopsy can be reserved for atypical cases. Non-specific mitochondrial changes in the muscle specimens of these patients should be appreciated, so as to avoid diagnostic confusion. It is hoped that greater awareness among medical professionals and judicious use of PABPN1 gene analysis will lead to earlier diagnosis, better management, and avoidance of unnecessary invasive investigations of affected patients.
Key words: Hong Kong; Muscular dystrophy, oculopharyngeal; Neural conduction; Poly(A)-binding protein 1
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