Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: Lack of evidence for an associated peripheral neuropathy

Lyell K. Jones, C. Michel Harper

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Objective: To describe the clinical and electrophysiologic features of an unselected population of patients diagnosed clinically or genetically with oculopharyngeal muscular dystrophy (OPMD), and to discern any association with a peripheral neuropathy. Methods: Patients with a clinical or genetic diagnosis of OPMD were retrospectively identified and characterized in terms of clinical and electrophysiologic features. Results: Fourteen patients who met the design criteria were identified and included. All had progressive ptosis and dysphagia, and most had ophthalmoparesis and proximal limb weakness. The electromyographic findings were similar to findings in other dystrophic diseases. Nine out of 10 patients had normal sural sensory nerve action potentials (mean amplitude 14.2 μV, range 0-22 μV). Conclusions: The electrophysiologic findings associated with OPMD are similar to changes noted in other dystrophic diseases. These findings argue against an association between OPMD and peripheral neuropathy. Significance: OPMD may not be associated with a peripheral neuropathy, as has been previously suggested.

Original languageEnglish (US)
Pages (from-to)870-873
Number of pages4
JournalClinical Neurophysiology
Volume121
Issue number6
DOIs
StatePublished - Jun 1 2010

Keywords

  • Muscular dystrophy
  • Myopathy
  • Oculopharyngeal muscular dystrophy
  • Peripheral neuropathy

ASJC Scopus subject areas

  • Sensory Systems
  • Neurology
  • Clinical Neurology
  • Physiology (medical)

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