[Juvenile asymmetrical segmental spinal muscular atrophy].
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.
Ørngreen
Mette Cathrine
MC
Neurologisk klinik 2082, H:S Rigshospitalet, DK-2100 København ø.
Gideon
Peter
P
Pedersen
Helmer Buchardt
HB
Olsen
David Benée
DB
Vissing
John
J
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