Abstract
Adult-onset acid maltase deficiency is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency. We present a case of a 53-year-old woman who presented with several years of severe, diffuse myalgia and no evidence of weakness on examination. Further testing revealed a mildly elevated serum creatine kinase, a subtle vacuolar myopathy, decreased skeletal muscle α-glucosidase activity, and causative mutations in the responsible . GAA gene. While likely very uncommon, adult-onset acid maltase deficiency may present with diffuse strength-sparing myalgia.
Original language | English (US) |
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Pages (from-to) | 763-766 |
Number of pages | 4 |
Journal | Neuromuscular Disorders |
Volume | 22 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2012 |
Keywords
- Acid maltase deficiency
- Glycogen storage disease II
- Myalgia
- Myofascial pain
- Pompe disease
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Clinical Neurology
- Genetics(clinical)