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Condition report · Neurological

Episodic Ataxia

Inherited conditions causing recurrent attacks of unsteadiness and poor coordination, lasting from minutes to hours, often triggered by stress, exercise or sudden movement. Between attacks people may be well or have mild symptoms.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Hereditary Episodic Ataxia

Autosomal dominant

A group of dominantly inherited ataxias with attacks of imbalance, including EA1 (KCNA1), EA2 (CACNA1A) and EA6 (SLC1A3).

What a diagnosis changes

Episodic ataxia type 2 often responds to acetazolamide or 4-aminopyridine, and avoiding known triggers can reduce attacks.

Genes analysed

Also known as

ea syndrome; episodic ataxia; episodic ataxia syndrome

Includes 9 related subtypes ↓
  • episodic ataxia type 1
  • episodic ataxia type 2
  • episodic ataxia type 3
  • episodic ataxia type 4
  • episodic ataxia type 5
  • episodic ataxia type 6
  • episodic ataxia type 7
  • episodic ataxia type 8
  • episodic ataxia, type 9
MONDO:0016227Orphanet 211062MedGen 314033

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