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  3. Spinocerebellar ataxia 10
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Spinocerebellar ataxia 10


Title




Other Names:
SCA10; Spinocerebellar ataxia type 10
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Hereditary ataxia; Spinocerebellar ataxia

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 98761

Definition
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.

Epidemiology
Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. SCA10 is the second most common inherited ataxia in these two countries.

Clinical description
Age of onset ranges from 18 to 45 years (mean age = 32.2 years). The most common type of epilepsy is generalized motor seizures, but partial motor or partial complex seizures can occur.

Etiology
SCA10 is caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved.

Prognosis
Prognosis is poor, especially for patients with refractory epilepsy. Exact disease duration is unknown. However, the mean disease duration can be estimated to be about 13 years.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2011

Symptoms Symptoms


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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.

Showing of 42 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
Gait ataxia
Inability to coordinate movements when walking
0002066
Progressive cerebellar ataxia 0002073
30%-79% of people have these symptoms
Cerebellar atrophy
Degeneration of cerebellum
0001272
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Dyskinesia
Disorder of involuntary muscle movements
0100660
Dysmetria
Lack of coordination of movement
0001310
EEG with generalized epileptiform discharges 0011198
Gait imbalance
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ]
0002141
Gaze-evoked nystagmus 0000640
Generalized-onset seizure 0002197
Impaired smooth pursuit 0007772
Intention tremor 0002080
Scanning speech
Explosive speech
0002168
Unsteady gait
Unsteady walk
0002317
5%-29% of people have these symptoms
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
0000718
Apathy
Lack of feeling, emotion, interest
0000741
Babinski sign 0003487
Depressivity
Depression
0000716
Focal impaired awareness seizure 0002384
Focal motor seizure 0011153
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Hyperreflexia
Increased reflexes
0001347
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ]
0001265
Lower limb spasticity 0002061
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ]
0002360
Status epilepticus
Repeated seizures without recovery between them
0002133
Urinary urgency
Overactive bladder
0000012
Percent of people who have these symptoms is not available through HPO
Abnormal pyramidal sign 0007256
Abnormality of extrapyramidal motor function 0002071
Autosomal dominant inheritance 0000006
Decreased nerve conduction velocity 0000762
Dementia
Dementia, progressive
Progressive dementia
[ more ]
0000726
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Genetic anticipation 0003743
Incomplete penetrance 0003829
Incoordination
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ]
0002311
Limb ataxia 0002070
Morphological abnormality of the pyramidal tract 0002062
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Seizure 0001250
Urinary incontinence
Loss of bladder control
0000020
Showing of 42 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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


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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 MedlinePlus Genetics.
  • 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.

Research Research


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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.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Spinocerebellar ataxia 10. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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


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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


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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


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

GARD Answers GARD Answers


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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.
You can help advance
rare disease research!
You can help advance rare disease research!
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Find out how with the NCATS Toolkit.

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