Type 2 Episodic Ataxia

The most common form of episodic ataxia, a genetically heterogeneous condition characterized by episodes of incoordiantion and imbalance similar to progressive ataxia. Episodic ataxia 2 exhibits autosomal dominant inheritance and is further characterized by onset in childhood or adolescence and the occurence of nystagmus, TINNITUS; MIGRAINE HEADACHE, and other neurologic symptoms. Episodes are often triggered by sudden movements, fatigue, stress, stimulant or alcohol use and may be treated by ACETAZOLAMIDE. Mutations in the CACNA1A gene have been identified. OMIM: 108500

Also Known As:

Episodic Ataxia, Type 2; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, Episodic, With Nystagmus; Ataxia, Familial Paroxysmal; Ataxia, familial, paroxysmal; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; Episodic Ataxia, Nystagmus-Associated; Episodic ataxia type 2; Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Type 2 Episodic Ataxia: 132
- Cranial Nerve Diseases: 554
  - Ocular Motility Disorders: 514
    - Pathologic Nystagmus: 207
      - Type 2 Episodic Ataxia: 132
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Type 2 Episodic Ataxia: 132
Eye Diseases: 3522
- Ocular Motility Disorders: 514
  - Pathologic Nystagmus: 207
    - Type 2 Episodic Ataxia: 132

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Therapy/Procedure