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.
Amato
A A
AA
Department of Neurology, Wilford Hall Medical Center, Lackland AFB, Texas 78236-5300, USA.
Jackson
C E
CE
Ridings
L W
LW
Barohn
R J
RJ
D000328:Adult; D017668:Age of Onset; D002648:Child; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications* / Q000000981:diagnostic imaging; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles; D011859:Radiography