Juvenil asymmetrisk segmental spinal muskelatrofi. En sjaelden form for motorneuronsygdom

Mette Cathrine Ørngreen, Peter Gideon, Helmer Buchardt Pedersen, David Benée Olsen, John Vissing

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.

Bidragets oversatte titelJuvenile asymmetrical segmental spinal muscular atrophy
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind164
Udgave nummer35
Sider (fra-til)4073-5
Antal sider3
ISSN0041-5782
StatusUdgivet - 26 aug. 2002

Emneord

  • Adolescent
  • Adult
  • Age of Onset
  • Electromyography
  • Extremities/physiopathology
  • Fasciculation/etiology
  • Humans
  • Male
  • Muscle Weakness/etiology
  • Spinal Muscular Atrophies of Childhood/diagnosis
  • Tremor/etiology

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