title: Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency.
abstract: Adult-onset acid maltase deficiency is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency. We present a case of a 53-year-old woman who presented with several years of severe, diffuse myalgia and no evidence of weakness on examination. Further testing revealed a mildly elevated serum creatine kinase, a subtle vacuolar myopathy, decreased skeletal muscle α-glucosidase activity, and causative mutations in the responsible GAA gene. While likely very uncommon, adult-onset acid maltase deficiency may present with diffuse strength-sparing myalgia.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA. Lyell@mayo.edu
authors.forename: Lyell K
authors.initials: LK
authors.lastname: Jones
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Ralitza H
authors.initials: RH
authors.lastname: Gavrilova
mesh_terms: D015897:Comorbidity; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000453:epidemiology / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology*; D018908:Muscle Weakness / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000453:epidemiology / Q000503:physiopathology; D000520:alpha-Glucosidases / Q000378:metabolism
chemical_list: D003402:Creatine Kinase; D000520:alpha-Glucosidases