Oculopharyngeal muscular dystrophy (OPMD): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Oculopharyngeal muscular dystrophy (OPMD): clinical features. This is caused by mutations in the PABPN1 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PABPN1 gene
  • It is polyalanine (Poly A) disorder
  • It results from a GCG repeat expansion
  • The normal repeat size is <6: it is pathological at 8-13 repeats
  • The transmission is usually autosomal dominant but recessive forms are recognised
  • It was first reported in French Canadians

Demographic features

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Ophthalmic features

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Bulbar and cranial features

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Neuropsychiatric features

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Peripheral features

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Differential diagnosis

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Complications

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References

  1. Hill ME, Creed GA, McMullan TFW, et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 2001; 124:522-526.
  2. Blumen SC, Bouchard J-P, Brais B, et al. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology 2009; 73:596-601.
  3. Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia 2008 pp494-495.
  4. Abu-Baker A, Rouleau GA. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta 2007; 1772:173-185. 
  5. Garibaldi M, Pennisi EM, Bruttini M, et al. Dropped-head in recessive oculopharyngeal muscular dystrophy. Neuromuscul Disord 2015; 25:869-872.
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