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Spinocerebellar ataxia type 7

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Name:
Spinocerebellar ataxia type 7
Description:
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
ORPHAcode:
94147
Synonyms:
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
ATXN7
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14