A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers
March 2011
Article
volume 21, issue 3 pp 232-234.
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We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy.
Keywords
- adult
- article
- female
- human
- disease severity
- priority journal
- gene mutation
- alanine aminotransferase blood level
- alanine aminotransferase
- fatigue
- myalgia
- case report
- clinical feature
- genetic heterogeneity
- aspartate aminotransferase blood level
- aspartate aminotransferase
- creatine kinase
- DNA determination
- muscle biopsy
- glycogen storage disease type 2
- Fatigue
- Glycogenosis type II
- Lysosomal storage disease
- Muscle fiber type
- Muscle pathology
- creatine kinase blood level
- limb girdle muscular dystrophy
- muscle cell
