Conditions / Nervous system

episodic ataxia type 1

info ยท Nervous system

An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.

Signs and symptoms

  • Abnormality of the hand
  • Incoordination
  • Myokymia
  • Elevated circulating creatine kinase activity
  • Babinski sign
  • Vertigo
  • Episodic ataxia
  • Abnormality of the musculature
  • Dysarthria
  • Spastic gait