Living with Autosomal recessive ataxia due to ubiquinone deficiency
An inherited condition with balance and coordination problems that begin in childhood.
Understanding Autosomal recessive ataxia due to ubiquinone deficiency
It involves shrinking of the cerebellum, the part of the brain that coordinates movement. Features can include low muscle tone, muscle weakness in the upper arms and legs, and trouble exercising. Some children lose skills they had gained, and learning is affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowly worsening balance and coordination problems
- Shrinking of the cerebellum
- Low muscle tone (hypotonia)
- Weakness in upper arm and leg muscles
- Trouble exercising for as long as usual
- Loss of developmental skills (regression)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in COQ8A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation, Epilepsy Foundation and United Mitochondrial Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: National Ataxia Foundation, Epilepsy Foundation, United Mitochondrial Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the COQ8A gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: arca2; arca2 - autosomal recessive cerebellar ataxia type 2; autosomal recessive ataxia due to coenzyme q10 deficiency; autosomal recessive cerebellar ataxia type 2; autosomal recessive spinocerebellar ataxia type 9; cabc1-related coenzyme q10 deficiency
Patient organizations
- National Ataxia FoundationAutosomal recessive ataxia due to ubiquinone deficiency · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive ataxia due to ubiquinone deficiency.
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