Autosomal recessive spinocerebellar ataxia 9

Alternate names

Autosomal recessive ataxia due to ubiquinone deficiency; ARCA2; Autosomal recessive ataxia due to coenzyme Q10 deficiency; Autosomal recessive cerebellar ataxia type 2; Autosomal recessive spinocerebellar ataxia type 9; SCAR9

Definition

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

Epidemiology

Prevalence is unknown.

Cause

• 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.

Signs and symptoms

Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Cerebellar atrophy(Degeneration of cerebellum)
• Progressive cerebellar ataxia

30%-79% of people have these symptoms

• Brisk reflexes
• Central hypotonia
• Developmental regression(Loss of developmental milestones)
• Exercise intolerance(Decreased ability to exercise)
• Focal T2 hypointense basal ganglia lesion
• Intellectual disability, moderate(IQ between 34 and 49)
• Proximal muscle weakness(Weakness in muscles of upper arms and upper legs)
• Talipes cavus equinovarus

5%-29% of people have these symptoms

• Abnormal pyramidal sign
• EMG abnormality
• Increased CSF lactate
• Increased serum lactate
• Lactic acidosis(Increased lactate in body)
• Myoclonus
• Neurodevelopmental delay
• Seizure
• Strabismus(Cross-eyed)
• Tremor

1%-4% of people have these symptoms

• Dystonia
• Gynecomastia(Enlarged male breast)
• Hearing impairment(Deafness)

NIH genetic and rare disease info

• NIH info on Autosomal recessive spinocerebellar ataxia 9

Autosomal recessive spinocerebellar ataxia 9 is a rare disease.

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