Episodic ataxia with nystagmus

From WikiMD's Medical Encyclopedia

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.


Resources

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