title: Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis.
abstract: Subacute severe myopathy of the respiratory muscles developed in a 47-year-old woman after a 3-week period of strict fasting. Histological and biochemical work-up of muscle biopsy specimens permitted the diagnosis of debrancher deficiency. The course of the disease was characterized by subacute respiratory failure and prolonged mechanical ventilation. After initiation of a high-protein diet the patient was successfully weaned from the respirator and recovered well. To our knowledge this is the first reported case of adult-onset debrancher deficiency myopathy presenting with subacute respiratory failure and responding to high-protein diet.
authors.affiliation: Department of Neurology, Innsbruck University Clinic, Austria. stefan.kiechl@uibk.ac.at
authors.forename: S
authors.initials: S
authors.lastname: Kiechl
authors.forename: J
authors.initials: J
authors.lastname: Willeit
authors.forename: W
authors.initials: W
authors.lastname: Vogel
authors.forename: U
authors.initials: U
authors.lastname: Kohlendorfer
authors.forename: W
authors.initials: W
authors.lastname: Poewe
mesh_terms: D017668:Age of Onset; D001706:Biopsy; D004044:Dietary Proteins; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000473:pathology* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology*; D012121:Respiration, Artificial; D016896:Treatment Outcome; D015300:Ventilator Weaning
chemical_list: D004044:Dietary Proteins