title: Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy.
abstract: 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.
authors.affiliation: Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical College, 3959 Broadway BH6N, Room 601A, New York, New York 10032, USA. as2718@columbia.edu
authors.forename: Alfred E
authors.initials: AE
authors.lastname: Slonim
authors.forename: Linda
authors.initials: L
authors.lastname: Bulone
authors.forename: Teresia
authors.initials: T
authors.lastname: Goldberg
authors.forename: Jennifer
authors.initials: J
authors.lastname: Minikes
authors.forename: Efrat
authors.initials: E
authors.lastname: Slonim
authors.forename: Joseph
authors.initials: J
authors.lastname: Galanko
authors.forename: Frank
authors.initials: F
authors.lastname: Martiniuk
mesh_terms: D000328:Adult; D000368:Aged; D004040:Dietary Carbohydrates / Q000378:metabolism / Q000627:therapeutic use; D004044:Dietary Proteins / Q000378:metabolism / Q000627:therapeutic use; D018450:Disease Progression; D005081:Exercise Therapy / Q000379:methods*; D005260:Female; D005526:Food, Formulated; D006009:Glycogen Storage Disease Type II / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009135:Muscular Diseases / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy*; D044623:Nutrition Therapy / Q000379:methods*; D010349:Patient Compliance; D010809:Physical Fitness / Q000502:physiology; D011446:Prospective Studies; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D016896:Treatment Outcome; D014797:Vital Capacity / Q000502:physiology
chemical_list: D004040:Dietary Carbohydrates; D004044:Dietary Proteins