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 neuromuscular disorder is unknown and requires further study.