National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autosomal recessive spinocerebellar ataxia 9


Other Names:
Autosomal recessive ataxia due to ubiquinone deficiency; ARCA2; Autosomal recessive ataxia due to coenzyme Q10 deficiency; 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 See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.
Last updated: 5/1/2008

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 23 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cerebellar atrophy
Degeneration of cerebellum
0001272
Progressive cerebellar ataxia 0002073
30%-79% of people have these symptoms
Brisk reflexes 0001348
Central hypotonia 0011398
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Exercise intolerance
Decreased ability to exercise
Inability to exercise
[ more ] 		0003546
Focal T2 hypointense basal ganglia lesion 0012752
Intellectual disability, moderate
IQ between 34 and 49
0002342
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Talipes cavus equinovarus 0004696
5%-29% of people have these symptoms
Abnormal pyramidal sign 0007256
EMG abnormality 0003457
Increased CSF lactate 0002490
Increased serum lactate 0002151
Lactic acidosis
Increased lactate in body
0003128
Myoclonus 0001336
Neurodevelopmental delay 0012758
Seizure 0001250
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Tremor 0001337
1%-4% of people have these symptoms
Dystonia 0001332
Gynecomastia
Enlarged male breast
0000771
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Showing of 23 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • The National Ataxia Foundation, a nonprofit organization dedicated to improving the lives of persons affected by ataxia, provides lists of neurologists, ataxia clinics, and movement disorder clinics.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • Coordination of Rare Diseases at Sanford (CoRDS) hosts a specific registry for patients with ataxia in partnership with the National Ataxia Foundation. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Autosomal recessive spinocerebellar ataxia 9. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive spinocerebellar ataxia 9. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.