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Disease Profile
Spinocerebellar ataxia type 6
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 / 1 000 000
Age of onset
Adolescent
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)
SCA6; Spinocerebellar ataxia 6
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 | ||
Bradyopsia |
Difficulty seeing moving objects
|
0030511 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Gaze-evoked horizontal |
0007979 | |
Incoordination |
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ] |
0002311 |
Intention tremor | 0002080 | |
Postural instability |
Balance impairment
|
0002172 |
Progressive cerebellar ataxia | 0002073 | |
Unsteady gait |
Unsteady walk
|
0002317 |
30%-79% of people have these symptoms | ||
Babinski sign | 0003487 | |
Choking episodes | 0030842 | |
Diplopia |
Double vision
|
0000651 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Vertical nystagmus | 0010544 | |
5%-29% of people have these symptoms | ||
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] |
0000643 |
Difficulty articulating speech
|
0001260 | |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal vestibulo-ocular reflex | 0007670 | |
0000006 | ||
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Gaze-evoked nystagmus | 0000640 | |
Genetic |
0003743 | |
Impaired smooth pursuit | 0007772 | |
Progressive |
Worsens with time
|
0003676 |
Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
- 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
- Episodes of
ataxia , vertigo, and sleep disorders can be treated with medication, - Home modifications may be made for safety and convenience,
- Canes and walkers can allow for continued mobility,
- Speech therapy and communication devices may help with
dysarthria , and - Weighted eating utensils and dressing hooks can help patients maintain independence.
Affected individuals should be followed annually or semiannually by a
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes other types of autosomal dominant cerebellar ataxia, familial or sporadic hemiplegic migraine and episodic ataxia type 2.
Visit the Orphanet disease page for more information.
|
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: helpline@ataxia.org.uk
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: 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 Spinocerebellar ataxia type 6. 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 Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. 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.
- 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.
- 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 type 6. Click on the link to view a sample search on this topic.
References
- Spinocerebellar ataxia type 6. Genetics Home Reference (GHR). 2011; https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6. Accessed 10/10/2012.
- Frequently Asked Questions About Spinocerebellar Ataxia Type 6 (SCA6). National Ataxia Foundation. 2012; https://www.ataxia.org/pdf/NAF%20Web%20Content%20Publication%20SCA6.pdf. Accessed 10/10/2012.
- Gomez CM. Spinocerebellar Ataxia Type 6. GeneReviews. 2008; https://www.ncbi.nlm.nih.gov/books/NBK1140/. Accessed 10/10/2012.
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