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Childhood‐onset oculopharyngodistal myopathy with chronic intestinal pseudo‐obstruction
Author(s) -
Amato Anthony A.,
Jackson Carlayne E.,
Ridings Larry W.,
Barohn Richard J.
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880180807
Subject(s) - intestinal pseudo obstruction , medicine , oculopharyngeal muscular dystrophy , dysphagia , myopathy , ptosis , weakness , mitochondrial myopathy , chronic progressive external ophthalmoplegia , pharyngeal muscles , external ophthalmoplegia , muscular dystrophy , pediatrics , gastroenterology , pathology , surgery , swallowing , genetics , gene , biology , mitochondrial dna
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.