New family with paroxysmal exercise-induced dystonia and epilepsy

Mov Disord. 2007 Apr 30;22(6):873-7. doi: 10.1002/mds.21350.

Abstract

To date, there are few reports of paroxysmal exercise-induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal-dominant inheritance, who exhibited typical exercise-induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2
  • Epilepsy / etiology
  • Epilepsy / genetics*
  • Exercise Tolerance*
  • Exercise*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Movement Disorders / etiology
  • Movement Disorders / genetics*
  • Pedigree