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Autosomal recessive ataxia due to ubiquinone deficiency
Disease definition
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
ORPHA:139485
Classification level: Disorder- Synonym(s):
- ARCA2
- Autosomal recessive ataxia due to coenzyme Q10 deficiency
- Autosomal recessive cerebellar ataxia type 2
- Autosomal recessive spinocerebellar ataxia type 9
- SCAR9
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: G11.1
- ICD-11: LD90.Y
- OMIM: 612016 619028
- UMLS: C2677589
- MeSH: -
- GARD: 10294
- MedDRA: -
Summary
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.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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