title: Polyglucosan body disease myopathy: an unusual presentation.
abstract: Polyglucosan body disease (PBD) is a slowly progressive adult-onset glycogen storage disorder that typically affects upper and lower neurons. Myopathy, as a complication of PBD has been reported rarely and clinically manifests as chronic limb-girdle muscle weakness. We report an unusual case of PBD myopathy presenting as an asymmetric motor syndrome that clinically overlapped with amyotrophic lateral sclerosis, further expanding the phenotype of this disorder.
authors.affiliation: Prince of Wales Medical Research Institute and Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.
authors.forename: Steve
authors.initials: S
authors.lastname: Vucic
authors.forename: Roger
authors.initials: R
authors.lastname: Pamphlett
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Wills
authors.forename: Con
authors.initials: C
authors.lastname: Yiannikas
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D005936:Glucans / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000150:complications / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology*; D009135:Muscular Diseases / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology*; D012021:Reflex, Abnormal / Q000502:physiology
chemical_list: D005936:Glucans; D006003:Glycogen; C083094:polyglucosan