Familial paroxysmal kinesigenic ataxia and continuous myokymia

Brain. 1990 Oct:113 ( Pt 5):1361-82. doi: 10.1093/brain/113.5.1361.

Abstract

A large family with paroxysmal ataxia and continuous myokymic discharges is described. The disorder is of autosomal dominant inheritance. During attacks coordination of movements and balance are disturbed; often a postural tremor of the head and the hands and fine twitching in some of the facial and hand muscles are present. The attacks usually last a few minutes and may occur several times per day. They first appear in childhood and tend to abate after early adulthood. The attacks are frequently precipitated by kinesigenic stimuli similar to those in paroxysmal kinesigenic choreoathetosis. Their occurrence can be reduced or prevented by carbonic anhydrase inhibitors. Between attacks a slight postural tremor and ataxia was found in a few of the elderly affected members. Fine rippling myokymia was obvious in a few and could be detected on close inspection in about half of the adults. Electromyography (EMG) showed myokymic discharges in all affected members. The characteristics and reactivity of this myokymic activity suggest multiple impulse generation in the peripheral nerves.

Publication types

  • Case Reports

MeSH terms

  • Acetazolamide / adverse effects
  • Acetazolamide / therapeutic use
  • Adult
  • Ataxia / drug therapy
  • Ataxia / genetics
  • Ataxia / physiopathology*
  • Carbonic Anhydrase Inhibitors / therapeutic use
  • Child
  • Electrophysiology
  • Fasciculation / genetics
  • Fasciculation / physiopathology*
  • Female
  • Humans
  • Ischemia / physiopathology
  • Male
  • Middle Aged
  • Muscles / blood supply
  • Muscles / physiopathology
  • Nervous System / physiopathology
  • Neural Conduction
  • Pedigree

Substances

  • Carbonic Anhydrase Inhibitors
  • Acetazolamide