Episodic ataxia with nystagmus
Alternate names
Nystagmus-associated episodic ataxia; Episodic ataxia type 2; EA2; Cerebellopathy, hereditary paroxysmal; Ataxia, familial, paroxysmal; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; APCA; Acetazolamide-responsive episodic ataxia syndrome; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; CAPA
Definition
Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
NIH genetic and rare disease info
Episodic ataxia with nystagmus is a rare disease.
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