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September 8, 2014: Myopathy masquerading as myasthenia

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September 8, 2014

Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset, autosomal dominant myopathy, characterized by progressive bilateral ptosis and dysphagia.  Ophthalmoplegia and proximal limb weakness occur in advanced disease. [1]  OPMD demonstrates complete penetrance by age 70 and is most prevalent amongst Bukhara Jews (1:600).  OPMD is caused by a trinucleotide repeat (GCG) within the PABPN1 gene, which dysregulates skeletal muscle metabolism. Unlike some other trinucleotide repeat disorders, this disease does now show anticipation. Diagnosis is confirmed by genetic testing [2].  To date, no cure exists for OPMD.  However, blepharoplasty, levator advancement and cricopharyngeal myotomy may be considered for symptom relief. 

References

  1. Victor M, Hayes R, Adams R. Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med 1962; 267: 1267-1272.
  2. Brais B. Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep 2009; 9: 76-82. 

Submitted by Gemma Reynolds BA, (Psych)(Hons) and John Carmody, MRCPI, FRACP, Wollongong Hospital, Wollongong, NSW, Australia.

Disclosures: Dr. Reynolds and Carmody report no disclosures.

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