Autosomal dominant cerebellar ataxia type 3 (Q85241): Difference between revisions
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Grupo de ataxias cerebelares autossômicas dominantes denominadas ataxias espinocerebelares (SCA), que são caracterizadas por disartria, reflexos variáveis, rigidez extrapiramidal, distonia, sinais bulbares, fraqueza motora distal, polineuropatia ou oftalmoplegia. Várias estão associados à codificação de expansões de repetição CAG e exibem antecipação genética ao longo das gerações. | |||
| description / en | description / en | ||
Group of autosomal dominant cerebellar ataxias referred to as spinocerebellar ataxias (SCAs) that are characterized by dysarthria, variable reflexes, extrapyramidal rigidity, dystonia, bulbar signs, distal motor weakness, polyneuropathy, or ophthalmoplegia. Several are associated with coding CAG repeat expansions and display genetic anticipation across generations. | |||
Revision as of 10:36, 15 August 2026
Group of autosomal dominant cerebellar ataxias referred to as spinocerebellar ataxias (SCAs) that are characterized by dysarthria, variable reflexes, extrapyramidal rigidity, dystonia, bulbar signs, distal motor weakness, polyneuropathy, or ophthalmoplegia. Several are associated with coding CAG repeat expansions and display genetic anticipation across generations.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_390406504 |
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| English | Autosomal dominant cerebellar ataxia type 3 |
Group of autosomal dominant cerebellar ataxias referred to as spinocerebellar ataxias (SCAs) that are characterized by dysarthria, variable reflexes, extrapyramidal rigidity, dystonia, bulbar signs, distal motor weakness, polyneuropathy, or ophthalmoplegia. Several are associated with coding CAG repeat expansions and display genetic anticipation across generations. |
