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Adult‐onset acid maltase deficiency presenting as diaphragmatic paralysis
Author(s) -
Sivak Edward D.,
Salanga Virgilio D.,
Wilbourn Asa J.,
Mitsumoto Hiroshi,
Golish Joseph
Publication year - 1981
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410090618
Subject(s) - medicine , muscle biopsy , weakness , paralysis , diaphragmatic breathing , biopsy , pediatrics , surgery , pathology , alternative medicine
A 51‐year‐old man presented with a six‐year history of gradually progressive exertional dyspnea. His complaint was attributed to increasing age, but evaluation finally led to a diagnosis of diaphragmatic paralysis. Neurological examination disclosed only minimal evidence of weakness of limb muscles. Electromyographic studies suggested a diagnosis of acid maltase deficiency, which was confirmed by electron microscopic and biochemical studies of muscle biopsy sections. Exercise stress testing was necessary to define the limits of the patient's exercise tolerance.