Spinocerebellar ataxia 1

Title

Other Names:

SCA1; Spinocerebellar ataxia type 1; Olivopontocerebellar atrophy 1; SCA1; Spinocerebellar ataxia type 1; Olivopontocerebellar atrophy 1; OPCA1; Cerebelloparenchymal disorder 1; Menzel type OPCA; Olivopontocerebellar atrophy 4; OPCA4; Schut-Haymaker type OPCA; Spinocerebellar atrophy 1 See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Hereditary ataxia; Spinocerebellar ataxia

Summary Summary

Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA1, but treatments are available to help manage symptoms. People with SCA1 typically survive 10 to 30 years after symptoms first appear.^[1]^[2]

Last updated: 2/24/2016

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
Progressive cerebellar ataxia		0002073
30%-79% of people have these symptoms
Abnormal flash visual evoked potentials		0007928
Abnormal nerve conduction velocity		0040129
Abnormality of somatosensory evoked potentials		0007377
Atrophy/Degeneration affecting the brainstem		0007366
Bradykinesia	Slow movements Slowness of movements [ more ]	0002067
Bulbar signs		0002483
Cerebellar atrophy	Degeneration of cerebellum	0001272
Chorea		0002072
Dysarthria	Difficulty articulating speech	0001260
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Dystonia		0001332
Inertia		0030216
Loss of Purkinje cells in the cerebellar vermis		0007001
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Slow saccadic eye movements	Slow eye movements	0000514
Slurred speech		0001350
Staring gaze		0025401
Upgaze palsy		0025331
5%-29% of people have these symptoms
Abnormality of masticatory muscle		0410011
Dysdiadochokinesis	Difficulty performing quick and alternating movements	0002075
Dysmetria	Lack of coordination of movement	0001310
Fasciculations	Muscle twitch	0002380
Gait imbalance	Abnormality of balance Abnormality of equilibrium Imbalanced walk [ more ]	0002141
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hyperactive deep tendon reflexes		0006801
Hypermetric saccades		0007338
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Impaired proprioception		0010831
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Ophthalmoparesis	Weakness of muscles controlling eye movement	0000597
Optic atrophy		0000648
Postural tremor		0002174
Respiratory failure		0002878
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
1%-4% of people have these symptoms
Decreased amplitude of sensory action potentials		0007078
Decreased motor nerve conduction velocity		0003431
Decreased sensory nerve conduction velocity		0003448
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function		0002071
Adult onset	Symptoms begin in adulthood	0003581
Areflexia	Absent tendon reflexes	0001284
Autosomal dominant inheritance		0000006
Babinski sign		0003487
Bulbar palsy		0001283
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Dilated fourth ventricle		0002198
Distal amyotrophy	Distal muscle wasting	0003693
Dorsal column degeneration		0007006
Dysmetric saccades	Uncoordinated eye movement	0000641
Gaze-evoked nystagmus		0000640
Genetic anticipation with paternal anticipation bias		0003744
Hyperreflexia	Increased reflexes	0001347
Impaired horizontal smooth pursuit		0001151
Impaired vibratory sensation	Decreased vibration sense Decreased vibratory sense Diminished vibratory sense Impaired vibratory sense [ more ]	0002495
Limb ataxia		0002070
Muscular hypotonia	Low or weak muscle tone	0001252
Olivopontocerebellar atrophy		0002542
Optic disc pallor		0000543
Scanning speech	Explosive speech	0002168
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Spinocerebellar atrophy		0007263
Spinocerebellar tract degeneration		0002503
Supranuclear ophthalmoplegia		0000623
Truncal ataxia	Instability or lack of coordination of central trunk muscles	0002078
Urinary bladder sphincter dysfunction		0002839

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

Last updated: 10/1/2020

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

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.

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Spinocerebellar ataxia 1. 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

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/
euro-ATAXIA (European Federation of Hereditary Ataxias)
Website: https://www.euroataxia.org/
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

Genetics Home Reference (GHR) contains information on Spinocerebellar ataxia 1. 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 1. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
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May 22, 2020
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May 21, 2020

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. Submit a new question

Is it common to have bowel problems when you have SCA1? See answer

Have a question? Contact a GARD Information Specialist.

References References

Spinocerebellar ataxia type 1. Genetic Home Reference. Reviewed February 2011; http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1. Accessed 2/24/2016.
Bird TD. Hereditary Ataxia Overview. GeneReviews. November 26, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1138/. Accessed 2/17/2015.
Frequently asked questions about sporadic ataxia and multiple system atrophy (MSA). National Ataxia Foundation. https://www.ataxia.org/pdf/Sporadic.pdf. Accessed 2/24/2016.
Mähler A et al.,. Increased catabolic state in spinocerebellar ataxia type 1 patients. Cerebellum. 2014 Aug; 13(4):440-6. Accessed 2/24/2016.