Spinocerebellar ataxia type 31 (Q101084): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Knowledge Architect | |||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||
Normal rank | |||
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 |
||
| 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
0 references
dki-india-ID_250956064
0 references
Concluído
0 references
