Don’t fight Autosomal recessive spinocerebellar ataxia 9 alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 139485
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
Prevalence is unknown.
Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.
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.
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
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!