Autosomal recessive spinocerebellar ataxia 9
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 139485
Definition
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
Epidemiology
Prevalence is unknown.
Clinical description
Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.
Etiology
The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3 / CABC1 gene have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast.
Genetic counseling
The syndrome is transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Minneapolis, MN, 55426, United States Phone: +1-763-553-0020 Fax : +1-763-553-0167 Email: naf@ataxia.org Url: https://ataxia.org/
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