Spinocerebellar ataxia type-13
id:
spinocerebellar-ataxia-type-13-232-5731038
title:
Spinocerebellar ataxia type-13
text:
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Spinocerebellar_ataxia_type-13
date created:
date modified:
2020-09-30T16:07:58Z
main entity:
{"identifier":"Q2310947","url":"https://www.wikidata.org/entity/Q2310947"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/4e/Autosomal_dominant_-_en.svg","width":738,"height":1260}
fields total:
13
integrity:
15