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Disease Profile
Spinocerebellar ataxia 2
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.
1-9 / 100 000
Age of onset
All ages
ICD-10
G11.2
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)
SCA 2; Spinocerebellar ataxia type 2; Spinocerebellar atrophy 2;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Spinocerebellar
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 | ||
Abnormal substantia nigra morphology | 0045007 | |
Progressive cerebellar ataxia | 0002073 | |
30%-79% of people have these symptoms | ||
Abnormal |
0025461 | |
Abnormality of the spinocerebellar tracts | 0003133 | |
Cerebellar Purkinje layer atrophy | 0012082 | |
Chorea | 0002072 | |
Dementia |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 |
Difficulty articulating speech
|
0001260 | |
Dystonia | 0001332 | |
Fasciculations |
Muscle twitch
|
0002380 |
Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Kinetic tremor | 0030186 | |
Muscle spasm | 0003394 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Olivopontocerebellar hypoplasia | 0006955 | |
Postural tremor | 0002174 | |
Slow saccadic eye movements |
Slow eye movements
|
0000514 |
Spinal cord posterior columns |
0008311 | |
Supranuclear ophthalmoplegia | 0000623 | |
5%-29% of people have these symptoms | ||
Abnormal cortical gyration | 0002536 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Cerebral white matter atrophy | 0012762 | |
Hyperactive deep tendon reflexes | 0006801 | |
Parkinsonism | 0001300 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Dilated fourth ventricle | 0002198 | |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Dysdiadochokinesis |
Difficulty performing quick and alternating movements
|
0002075 |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Dysmetric saccades |
Uncoordinated eye movement
|
0000641 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Gaze-evoked nystagmus | 0000640 | |
Genetic |
0003743 | |
Impaired horizontal smooth pursuit | 0001151 | |
Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
Limb ataxia | 0002070 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Myoclonus | 0001336 | |
Oculomotor apraxia | 0000657 | |
Olivopontocerebellar atrophy | 0002542 | |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Postural instability |
Balance impairment
|
0002172 |
Rigidity |
Muscle rigidity
|
0002063 |
Rod-cone dystrophy | 0000510 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Spinocerebellar tract degeneration | 0002503 | |
Urinary bladder sphincter dysfunction | 0002839 |
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
- Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing is a booklet providing information about spinocerebellar ataxia and is available as a PDF document on the University of Washington Medical Center Web site. Click on the title above to view this resource.
Treatment
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
-
Ataxia UK
12 Broadbent Close
London, N6 5JW United Kingdom
Toll-free: 0845 644 0606 (Helpline)
Telephone: 020 7582 1444
E-mail: [email protected]
Website: https://www.ataxia.org.uk/ -
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: [email protected]
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 Spinocerebellar ataxia 2. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- The Neuromuscular Disease Center at Washington University provides information about spinocerebellar ataxia 2.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Spinocerebellar ataxia 2. Click on the link to view a sample search on this topic.
References
- Pulst SM. Spinocerebellar ataxia type 2. GeneReviews. November 12, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1275/.
- Spinocerebellar ataxia type 2. Genetics Home Reference. February, 2011; https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2.
- Lastres-Becker I, Rüb U, Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum. 2008;
- Spinocerebellar degenerations. Neuromuscular Disease Center at Washington University. 2009; https://neuromuscular.wustl.edu/ataxia/domatax.html#sca2.
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