obsolete spinocerebellar ataxia type 7
MONDO:0008120
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Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 7 (SCA7) is a rare genetic (autosomal dominant) disorder caused by a CAG nucleotide expansion in a gene ATXN7. This disorder belongs to polyglutamine disorders due to elongation of the polyglutamine tract. Symptoms usually begin between 20 and 40 years of age, and usual symptoms include ataxia, dysarthric speech, slow saccadic eye movements, pyramidal signs, difficulty swallowing, opthalmoplegia, and cone-rod dystrophy which can progress into blindness; it is one of the distinctive signs of this disorder. Duration is usually 20 to 30 years, but varies with age of onset. Prevalence of this disorder is less than 1:300 000, also this disorder represented 2% of the SCA cases; over 1000 individuals with SCA7 have been reported. SCA7 usually can be seen in Scandinavia, Africa, and Mexico, due to founder effect.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.