FAMILIAL PAROXYSMAL CHOREOATHETOSIS

 

FAMILIAL PAROXYSMAL CHOREOATHETOSIS

 

DEFINITION:

A rare movement disorder characterized by episodes of chorea, dystonia, or tonic posturing provoked by sudden physical activity.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • 1st and 2nd decades of life
  • risk factors:
    • familial - autosomal dominant and sporadic forms
      • chrom.#: ?
      • gene: ?

CLINICAL FEATURES:

1. Neurological Manifestations

  • episodes of chorea, dystonia, or tonic posturing provoked by
    • sudden physical activity
    • hyperventilation
    • profound emotions
    • stress
  • episode characteristics
    • usually last from 2-5 minutes (but can last for hours)
    • followed by an absolute refractory period for 5-20 minutes
    • bilateral or unilateral
    • not associated with loss of consciousness
    • frequency varies from few episodes/year to 100's/day
    • in some pateints associated with a sensory prodrome
      • numbness or tingling of face or limbs prior to attack

INVESTIGATIONS:

  • all tests (CT, MRI, EEG, etc) are normal

MANAGEMENT:

1. Medical

  • dilantin

 

 

Pediatric Database - FAMILIAL PAROXYSMAL CHOREOATHETOSIS

Pediatric Organization - Pedbase [at] Gmail.com