Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction

Muscle Nerve. 1995 Aug;18(8):842-7. doi: 10.1002/mus.880180807.

Abstract

Oculopharyngodistal myopathy is characterized by the adult onset of ptosis, external ophthalmoplegia, dysphagia, and distal weakness. Although dysphagia is common, other gastrointestinal involvement has not been described. We report a case with childhood onset who developed chronic intestinal pseudo-obstruction. Other myopathies associated with ophthalmoplegia and intestinal pseudo-obstruction such as mitochondrial cytopathies were excluded. Whether oculopharyngodistal myopathy is a variant of oculopharyngeal muscular dystrophy or a distinct neuromuscular disorder is unknown and requires further study.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Child
  • Female
  • Genetic Variation
  • Humans
  • Intestinal Pseudo-Obstruction / complications*
  • Intestinal Pseudo-Obstruction / diagnostic imaging
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / genetics
  • Oculomotor Muscles*
  • Pharyngeal Muscles*
  • Radiography