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Modification of the natural history of adult‐onset acid maltase deficiency by nutrition and exercise therapy
Author(s) -
Slonim Alfred E.,
Bulone Linda,
Goldberg Teresia,
Minikes Jennifer,
Slonim Efrat,
Galanko Joseph,
Martiniuk Frank
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20665
Subject(s) - medicine , maltase , myopathy , endocrinology , skeletal muscle , natural history , gastroenterology , physiology , biology , biochemistry , enzyme
Adult‐onset acid maltase deficiency is an inherited lysosomal skeletal‐muscle disease characterized by progressive myopathy and respiratory failure, for which there is no known therapy. In an uncontrolled, prospective study, we evaluated whether adherence to high‐protein and low‐carbohydrate nutrition and exercise therapy (NET) can slow the progressive deterioration of muscle function in this disease. Thirty‐four patients have been treated with NET for periods of 2–10 years (mean 4.5 ± 2.5). Pre‐NET rate of muscle function deterioration, as measured by the Walton scale, was compared to post‐NET rate. Twenty‐six patients were deemed to be consistently compliant with NET. Difference between pre‐NET slope of muscle function deterioration to that of post‐NET slope in compliant patients was −0.29 (95% CI −0.19, 0.39) ( P < 0.0001). We conclude that compliance with NET can slow deterioration of muscle function and improve the natural history of adult‐onset acid maltase deficiency. Muscle Nerve, 2006