Episodic ataxias (EA) are a set of inherited disorders that cause episodes of disequilibrium, clumsiness, and sometimes other symptoms, lasting minutes to hours, sometimes triggered by stress, by physical exertion, or by dietary factors. Episodes often begin in childhood and may occur a few times per year or multiple times per day. Patients feel normal (or mostly normal) in between episodes. Some patients improve with the oral medication acetazolamide. If acetazolamide fails, then consultation with an ataxia specialist or neurogeneticist is appropriate.

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Episodic Ataxias and Acetazolamide-Responsive Ataxias

  • Marcello Cherchi

摘要

Episodic ataxias (EA) are a set of inherited disorders that cause episodes of disequilibrium, clumsiness, and sometimes other symptoms, lasting minutes to hours, sometimes triggered by stress, by physical exertion, or by dietary factors. Episodes often begin in childhood and may occur a few times per year or multiple times per day. Patients feel normal (or mostly normal) in between episodes. Some patients improve with the oral medication acetazolamide. If acetazolamide fails, then consultation with an ataxia specialist or neurogeneticist is appropriate.