Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor

Mov Disord. 2006 May;21(5):599-608. doi: 10.1002/mds.20725.

Abstract

Familial cortical myoclonic tremor (FCMT) is a rare disorder often leading to a wrong clinical diagnosis of essential tremor. Electrophysiological data are usually considered to allow a correct diagnosis. We describe a FCMT French family with previously unreported clinical features such as sensitivity to glucose deprivation, vibration, repetitive visual patterns, and intense visual or auditory stimulation and contrasts. Electrophysiological studies of the propositus confirm the cortical reflex myoclonus elicited by photic stimulation and the absence of epileptic electroencephalographic discharges. We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Cerebral Cortex*
  • Diagnosis, Differential
  • Electroencephalography / methods
  • Electromyography / methods
  • Epilepsy / etiology
  • Epilepsy / physiopathology
  • Essential Tremor / diagnosis*
  • Essential Tremor / physiopathology
  • Evoked Potentials, Somatosensory / physiology
  • Family Health
  • Female
  • Humans
  • Male
  • Middle Aged
  • Myoclonus / diagnosis*
  • Myoclonus / genetics
  • Myoclonus / physiopathology
  • Reaction Time / physiology
  • Reflex / physiology