Oculopharyngeal muscular dystrophy (OPMD): clinical features

Evidence-based neurology checklist on oculopharyngeal muscular dystrophy (opmd): clinical features: 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…

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

Ophthalmic features

Bulbar and cranial features

Neuropsychiatric features

Peripheral features

Differential diagnosis

Complications

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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