Spinocerebellar ataxia 11

Title

Other Names:

SCA11; Spinocerebellar ataxia type 11

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Hereditary ataxia; Spinocerebellar ataxia

Summary Summary

Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. Age of onset ranges from the early teens to the mid 20s and life span is normal. Diagnosis is based on signs and symptoms and is confirmed by genetic testing finding a change (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.^[1]

Last updated: 8/11/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Difficulty walking	Difficulty in walking	0002355
Dysarthria	Difficulty articulating speech	0001260
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Gait imbalance	Abnormality of balance Abnormality of equilibrium Imbalanced walk [ more ]	0002141
Horizontal nystagmus		0000666
Jerky ocular pursuit movements		0008003
Progressive cerebellar ataxia		0002073
Vertical nystagmus		0010544
1%-4% of people have these symptoms
Abnormal pyramidal sign		0007256
Dystonia		0001332
Peripheral neuropathy		0009830
Percent of people who have these symptoms is not available through HPO
Adult onset	Symptoms begin in adulthood	0003581
Autosomal dominant inheritance		0000006
Cerebellar atrophy	Degeneration of cerebellum	0001272
Hyperreflexia	Increased reflexes	0001347
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Spinocerebellar ataxia type 11 (SCA11) is inherited in an autosomal dominant manner.^[1] Like most genes, the TTBK2 gene comes in a pair (two copies) and one copy of the gene comes from each parent. Autosomal dominant means that having a disease causing change (mutation) in only one copy of the TTBK2 gene in each cell is enough to cause SCA11. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have this condition.

In some cases, a person who has SCA11 inherits the mutation from a parent who also has SCA11. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Last updated: 8/12/2015

Diagnosis 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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
The National Ataxia Foundation, a nonprofit organization dedicated to improving the lives of persons affected by ataxia, provides lists of neurologists, ataxia clinics, and movement disorder clinics.

Related Diseases 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 diagnoses include other forms of ADCA type III, in particular SCA5, SCA6, SCA26, SCA30 and SCA31. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

Coordination of Rare Diseases at Sanford (CoRDS) hosts a specific registry for patients with ataxia in partnership with the National Ataxia Foundation. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access.

Organizations 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/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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

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 11. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.