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Disease Profile
Spinocerebellar ataxia 27
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.
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Age of onset
Adolescent
ICD-10
G11.8
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)
SCA27; Spinocerebellar ataxia type 27; Cerebellar ataxia autosomal dominant FGF14-related
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 98764
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 | ||
|
Difficulty articulating speech
|
0001260 | |
| Gaze-evoked |
0000640 | |
| 30%-79% of people have these symptoms | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Limb ataxia | 0002070 | |
| Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
| Pes cavus |
High-arched foot
|
0001761 |
| Sensory axonal neuropathy | 0003390 | |
| Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
| 5%-29% of people have these symptoms | ||
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Depressivity |
Depression
|
0000716 |
| Hand tremor |
Tremor of hand
Tremor of hands
tremors in hands
[ more ] |
0002378 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Red-green dyschromatopsia |
Red green color blindness
|
0000642 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| 1%-4% of people have these symptoms | ||
| Akinesia | 0002304 | |
| Dysgraphia | 0010526 | |
| Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
| Orofacial dyskinesia | 0002310 | |
| Postural tremor | 0002174 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Dysmetric saccades |
Uncoordinated eye movement
|
0000641 |
| Head tremor | 0002346 | |
| Impaired smooth pursuit | 0007772 | |
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
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.
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
- 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
- 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 27. Click on the link to view a sample search on this topic.