Rare Gastroenterology News
Advertisement
Disease Profile
Spinocerebellar ataxia
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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
Categories
Nervous System Diseases
Summary
Spinocerebellar
Symptoms
- Problems with coordination and balance (ataxia)
- Uncoordinated walk
- Poor hand-eye coordination
- Abnormal speech (
dysarthria ) - Involuntary eye movement
- Vision problems
- Difficulty processing, learning, and remembering information
Depending on the type of SCA, signs and symptoms can develop anytime from childhood to late adulthood.[3] SCA3, also known as Machado-Joseph disease, is the most common type of SCA. SCA types 9 through 36 are rare and less well characterized.[2]
Online
Other diseases, not included in that classification, use the term "spinocerebellar", and have an
- Autosomal recessive spinocerebellar ataxia 10 (SCAR10)
- Infantile-onset spinocerebellar ataxia (IOSCA)
- Autosomal recessive spinocerebellar ataxia 20 (SCAR20)
- Autosomal recessive spinocerebellar ataxia 9 (SCAR9)
- Autosomal recessive spinocerebellar ataxia16 (SCAR16)
- Autosomal recessive spinocerebellar ataxia 18 (SCAR18)
- Autosomal recessive spinocerebellar ataxia 13 (SCAR1)
- Autosomal recessive spinocerebellar ataxia 15 (SCAR15)
- Autosomal recessive spinocerebellar ataxia 2 (SCAR2)
- Autosomal recessive spinocerebellar ataxia 14 (SCAR14)
- Autosomal recessive spinocerebellar ataxia 11 (SCAR11)
- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- Autosomal recessive spinocerebellar ataxia 7 (SCAR7)
- Autosomal recessive spinocerebellar ataxia 12 (SCAR12).
Cause
Some types of SCA
Diagnosis
For some types of SCA, the genetic cause is still unknown.[3] Genetic testing is not available for families with these types of SCA.
The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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. Please see a list of laboratories offering the genetic test for SCA.
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.
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
-
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
- 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.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- 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 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia. Click on the link to view a sample search on this topic.
References
- Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Ataxias-and-Cerebellar-or-Spinocerebellar-Degeneration-Information-Page.
- Opal P & Zoghbi, HY. The Spinocerebellar Ataxias. UpToDate. 2016; https://www.uptodate.com/contents/the-spinocerebellar-ataxias.
- Autosomal Dominant Hereditary Ataxia. NORD. April 2014; https://rarediseases.org/rare-disease-information/rare-diseases/byID/674/viewFullReport.
- Bird TD. Hereditary Ataxia Overview. GeneReviews. November 26, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1138/. Accessed 2/17/2015.
- Bird TD. Hereditary Ataxia Overview. GeneReviews; March 3, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1138/.
- Opal P & Zoghbi HY. The Spinocerebellar Ataxias. UpToDate. July, 2016;
Rare Gastroenterology News