title: [Juvenile asymmetrical segmental spinal muscular atrophy].
abstract: We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.
authors.affiliation: Neurologisk klinik 2082, H:S Rigshospitalet, DK-2100 København ø.
authors.forename: Mette Cathrine
authors.initials: MC
authors.lastname: Ørngreen
authors.forename: Peter
authors.initials: P
authors.lastname: Gideon
authors.forename: Helmer Buchardt
authors.initials: HB
authors.lastname: Pedersen
authors.forename: David Benée
authors.initials: DB
authors.lastname: Olsen
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D004576:Electromyography; D005121:Extremities / Q000503:physiopathology; D005207:Fasciculation / Q000209:etiology; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D014202:Tremor / Q000209:etiology