Familial paroxysmal dystonic choreoathetosis revisited

Mov Disord. 1996 May;11(3):317-20. doi: 10.1002/mds.870110316.

Abstract

A case of familial paroxysmal dystonic choreoathetosis (PDC) documented by video/EEG monitoring is described. The father of the proband is affected by exertional cramping but not PDC, lending support to the previous hypothesis that exertional cramping may represent a "forme fruste" or the incomplete expression of PDC. Other family members affected by PDC are women, with exercise-induced cramping alone found in two men. Two of the women report prolonged exertion as a precipitant of lengthy spells consistent with typical PDC rather than the previously described "intermediate," exercise-induced form of PDC. Exertional cramping in families affected by PDC may represent the variable expression of the "dystonia gene" in male members. Conversely, exercise-induced PDC, both of the intermediate and longer form described here, may have a predilection to manifest in women.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Athetosis / diagnosis
  • Athetosis / genetics*
  • Athetosis / physiopathology
  • Cerebral Cortex / physiopathology
  • Chorea / diagnosis
  • Chorea / genetics*
  • Chorea / physiopathology
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Dystonia / physiopathology
  • Electroencephalography
  • Exercise / physiology
  • Female
  • Gene Expression / physiology
  • Genetic Carrier Screening
  • Humans
  • Male
  • Middle Aged
  • Monitoring, Physiologic
  • Neurologic Examination
  • Pedigree
  • Video Recording