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Disease Profile
Autosomal recessive spinocerebellar ataxia 9
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Childhood
ICD-10
G11.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Autosomal recessive ataxia due to ubiquinone deficiency; ARCA2; Autosomal recessive ataxia due to coenzyme Q10 deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Orpha Number: 139485
Symptoms
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.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Progressive cerebellar |
0002073 | |
| 30%-79% of people have these symptoms | ||
| Brisk reflexes | 0001348 | |
| Central |
0011398 | |
|
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 | |
|
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 | |
| 0001250 | ||
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Tremor | 0001337 | |
| 1%-4% of people have these symptoms | ||
| 0001332 | ||
|
Enlarged male breast
|
0000771 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Organizations
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
-
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: naf@ataxia.org
Website: https://ataxia.org/
Learn more
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.