Hereditary episodic ataxia (Q41032): Difference between revisions
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Transtornos autossômicos dominantes associados a episódios intermitentes de disfunção cerebelar, com funcionamento normal ou ataxia e nistagmo mínimos entre os episódios. Os dois subtipos principais incluem EA1 e EA2. EA1 é causado por uma mutação na codificação do gene KCNA1 e caracterizada por episódios desencadeados por exercício e mioquimia muscular. EA2 é causado por uma mutação no gene CACNA1A e envolve ataques mais prolongados de ataxia (durando de horas a dias) e ataxia residual interictal com nistagmo. | |||
| description / en | description / en | ||
Autosomal dominant disorders associated with intermittent episodes of cerebellar dysfunction, with normal functioning or minimal ataxia and nystagmus between episodes. The two major subtypes include EA1 and EA2. EA1 is caused by a mutation of the KCNA1 gene coding and characterized by episodes triggered by exercise and muscle myokymia. EA2 is caused by a mutation in CACNA1A gene and involves more prolonged attacks of ataxia (lasting hours to days), and interictal residual ataxia with nystagmus. | |||
Revision as of 07:04, 13 August 2026
Autosomal dominant disorders associated with intermittent episodes of cerebellar dysfunction, with normal functioning or minimal ataxia and nystagmus between episodes. The two major subtypes include EA1 and EA2. EA1 is caused by a mutation of the KCNA1 gene coding and characterized by episodes triggered by exercise and muscle myokymia. EA2 is caused by a mutation in CACNA1A gene and involves more prolonged attacks of ataxia (lasting hours to days), and interictal residual ataxia with nystagmus.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A03.14 |
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| English | Hereditary episodic ataxia |
Autosomal dominant disorders associated with intermittent episodes of cerebellar dysfunction, with normal functioning or minimal ataxia and nystagmus between episodes. The two major subtypes include EA1 and EA2. EA1 is caused by a mutation of the KCNA1 gene coding and characterized by episodes triggered by exercise and muscle myokymia. EA2 is caused by a mutation in CACNA1A gene and involves more prolonged attacks of ataxia (lasting hours to days), and interictal residual ataxia with nystagmus. |
