Spinocerebellar ataxia type 31 (Q101084): Difference between revisions
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Ataxia cerebelar autossômica dominante causada por uma expansão de repetição TGGAA não codificante nos genes BEAN e TK2. Caracterizada por ataxia de início tardio, disartria e nistagmo horizontal, que é ocasionalmente acompanhada de sinais piramidais, tremor, diminuição da sensação vibratória e dificuldades auditivas. | |||
| description / en | description / en | ||
An autosomal dominant cerebellar ataxia caused by a non-coding TGGAA repeat expansion in the BEAN and TK2 genes. Characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. | |||
Revision as of 17:52, 16 August 2026
An autosomal dominant cerebellar ataxia caused by a non-coding TGGAA repeat expansion in the BEAN and TK2 genes. Characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_250956064 |
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| English | Spinocerebellar ataxia type 31 |
An autosomal dominant cerebellar ataxia caused by a non-coding TGGAA repeat expansion in the BEAN and TK2 genes. Characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. |
