National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spinocerebellar ataxia 7


Other Names:
SCA7; Spinocerebellar ataxia type 7; Olivopontocerebellar atrophy 3; SCA7; Spinocerebellar ataxia type 7; Olivopontocerebellar atrophy 3; OPCA3; Autosomal dominant cerebellar ataxia type 2; OPCA with retinal degeneration; OPCA with macular degeneration and external ophthalmoplegia; OPCA III; ADCA, TYPE II See More
Categories:
This disease is grouped under:
Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia).[1] Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones.[2] SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner.[2] Treatment is generally symptomatic and supportive.
Last updated: 7/12/2011

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
100% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
Dysmetria
Lack of coordination of movement
0001310
Hyperreflexia
Increased reflexes
0001347
80%-99% of people have these symptoms
Cone/cone-rod dystrophy 0000548
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
30%-79% of people have these symptoms
Babinski sign 0003487
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Global developmental delay 0001263
Mental deterioration
Progressive cognitive decline
Intellectual deterioration
Cognitive decline, progressive
Cognitive decline
[ more ] 		0001268
Motor delay 0001270
Muscle weakness
Muscular weakness
0001324
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ophthalmoplegia
Eye muscle paralysis
0000602
Orofacial dyskinesia 0002310
Restless legs 0012452
Sensory impairment 0003474
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
5%-29% of people have these symptoms
Blindness 0000618
Hemeralopia
Day blindness
0012047
Macular degeneration 0000608
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Psychosis 0000709
1%-4% of people have these symptoms
Optic atrophy 0000648
Progressive cerebellar ataxia 0002073
Tremor 0001337
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function 0002071
Autosomal dominant inheritance 0000006
Chorea 0002072
Genetic anticipation with paternal anticipation bias 0003744
Olivopontocerebellar atrophy 0002542
Pigmentary retinopathy 0000580
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] 		0000529
Slow saccadic eye movements
Slow eye movements
0000514
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Supranuclear ophthalmoplegia 0000623
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Last updated: 7/1/2020

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.
Unfortunately, there is no cure for spinocerebellar ataxia 7 (SCA7). Management of affected individuals is generally supportive because there is currently no known treatment to delay or stop the progression of the disease. Exercise and/or physical therapy has not been shown to help with incoordination or muscle weakness, but individuals with SCA7 should try to maintain active. Canes and walkers can help prevent falls. Modification of the home with conveniences such as grab bars, raised toilet seats, and ramps to accommodate motorized chairs may be necessary. Speech therapy and communication devices such as writing pads and computer-based devices may benefit those with dysarthria (difficulty speaking). Weighted eating utensils and dressing hooks can help maintain a sense of independence. When dysphagia (difficulty swallowing) becomes troublesome, video esophagrams (a study using video x-rays of the esophagus) can identify the consistency of food least likely to trigger aspiration.[2]
Last updated: 9/17/2014

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

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 lipid storage diseases (such as neuronal ceroid lipofuscinosis) and Leber hereditary optic neuropathy. Other forms of ADCA should also be considered but can be excluded based on the absence of retinal degeneration, which is unique to SCA7.
Visit the Orphanet disease page for more information.

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 7. 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.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

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.

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

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

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

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

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 there a cure for spinocerebellar ataxia 7? Have some people been healed of this kind of disease? See answer


  1. Spinocerebellar ataxia type 7 (SCA7). National Ataxia Foundation. November 2008; http://www.ataxia.org/pdf/NAF%20Web%20Content%20Publication%20SCA7.pdf. Accessed 7/12/2011.
  2. Garden G. Spinocerebellar Ataxia Type 7. GeneReviews. December 20, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1256/. Accessed 9/17/2014.