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.

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Keywords DNA determination, Fatigue, Glycogenosis type II, Lysosomal storage disease, Muscle fiber type, Muscle pathology, adult, alanine aminotransferase, alanine aminotransferase blood level, article, aspartate aminotransferase, aspartate aminotransferase blood level, case report, clinical feature, creatine kinase, creatine kinase blood level, disease severity, fatigue, female, gene mutation, genetic heterogeneity, glycogen storage disease type 2, human, limb girdle muscular dystrophy, muscle biopsy, muscle cell, myalgia, priority journal
Persistent URL dx.doi.org/10.1016/j.nmd.2010.11.016, hdl.handle.net/1765/23823
Journal Neuromuscular Disorders
van den Berg, L.E.M, de Vries, J.M, Verdijk, R.M, van der Ploeg, A.T, Reuser, A.J.J, & van Doorn, P.A. (2011). A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers. Neuromuscular Disorders, 21(3), 232–234. doi:10.1016/j.nmd.2010.11.016