Spinocerebellar ataxia type 31 (Q101084)
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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. |
Statements
CID11:ID_250956064
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dki-india-ID_250956064
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Concluído
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