title: Cytoplasmic body myopathy masquerading as motor neuron disease.
abstract: Cytoplasmic body myopathy (CBM) is characterized by proteinaceous inclusion bodies in muscle tissue. A 43-year-old woman presented with rapidly progressive weakness and dysphagia. Electromyography (EMG) elsewhere demonstrated lower-limb chronic partial denervation. Muscle biopsy showed fiber size variation without diagnostic features. A diagnosis of possible motor neuron disease was made and the patient was commenced on riluzole. Subsequently, the patient's condition stabilized, prompting reassessment. Repeat EMG demonstrated no features of denervation and was more suggestive of a myopathic process. Review of the original muscle biopsy showed cytoplasmic bodies. The case highlights a further diagnostic possibility in the assessment of patients with "possible" motor neuron disease. The clinical features of CBM are briefly reviewed.
authors.affiliation: Multidisciplinary Motor Neuron Disease Service, Institute of Neurological Sciences, Prince of Wales Hospital, High Street, Randwick, Sydney, NSW 2031, Australia.
authors.forename: Arun V
authors.initials: AV
authors.lastname: Krishnan
authors.forename: Roger
authors.initials: R
authors.lastname: Pamphlett
authors.forename: David
authors.initials: D
authors.lastname: Burke
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Wills
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Kiernan
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000328:Adult; D003593:Cytoplasm / Q000473:pathology* / Q000648:ultrastructure; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000473:pathology* / Q000503:physiopathology; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology