Journal
MUSCLE & NERVE
Volume 33, Issue 4, Pages 571-574Publisher
JOHN WILEY & SONS INC
DOI: 10.1002/mus.20473
Keywords
glycogen storage disease; GSD-IIb; nutrition and exercise therapy; Pompe disease; type II glycogenosis
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Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from a young age showed an unusually benign course. Muscle biopsy from the older brother, which showed characteristic vacuolar glycogen accumulation at age 2, had reverted to normal by age 16. A muscle biopsy from the younger brother was normal at 5 years. It is uncertain whether this anomalous evolution was spontaneous (nature) or due to the symptomatic therapy (nurture), but NET should be considered in patients with GSD-IIb until enzyme replacement or gene therapy become generally available.
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