Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction

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 neuromusclar disorder is unknown and requires further study. © 1995 John Wiley & Sons, Inc.