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Disease Profile

Spinocerebellar ataxia 4

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.


US Estimated

Europe Estimated

Age of onset






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.


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.


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)

SCA4; Spinocerebellar ataxia type 4; Spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy


Congenital and Genetic Diseases; Nervous System Diseases


Spinocerebellar ataxia 4 (SCA4) is a very rare form of hereditary progressive movement disorder. Symptoms include muscle weakness (atrophy) and difficulty coordinating body movements (ataxia), most notably causing a jerky, unsteady walking style (gait) and difficulty speaking (dysarthria).[1][2] A distinctive feature of SCA4 is the progressive loss of feeling or sensation in the hands and feet (peripheral neuropathy) and loss of reflexes.[3] Degeneration of the area of the brain controlling balance and movement (cerebellar atrophy) causes symptoms to worsen over decades.[4] The symptoms of SCA4 typically begin during the fourth or fifth decade of life, but can begin as early as the late teen years.[5]. SCA4 is inherited in an autosomal dominant manner. Although SCA4 has been linked to a location on chromosome 16, (16q22.1), the gene which causes SCA4 when mutated has not been found.[6] Diagnosis is based on symptoms consistent with the disease. Although there is no cure, treatment options may include physical therapy, assistive devices, and medications depending on the type and severity of symptoms present. 


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:
80%-99% of people have these symptoms
Absent Achilles reflex
Absent ankle reflexes
Impaired proprioception
Impaired tactile sensation
Impaired touch sensation
Impaired vibratory sensation
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense

[ more ]

30%-79% of people have these symptoms
Difficulty articulating speech
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

Motor deterioration
Progressive degeneration of movement
5%-29% of people have these symptoms
Motor axonal neuropathy
Sensory axonal neuropathy
Percent of people who have these symptoms is not available through HPO
Absent tendon reflexes
Autosomal dominant inheritance
Babinski sign
Cerebellar atrophy
Degeneration of cerebellum
Distal sensory impairment
Decreased sensation in extremities
Decreased reflex response
Decreased reflexes

[ more ]

Impaired smooth pursuit
Limb dysmetria
Progressive cerebellar ataxia
Sensory neuropathy
Damage to nerves that sense feeling


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


    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

      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

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


          1. Thomas Bird. Autosomal Dominant Hereditary Ataxia. National Organization for Rare Disorders; 2014; https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/.
          2. Cassandra L. Kniffin and Victor A. McKusick. Spinocerebellar Ataxia 4; SCA4. Online Mendelian Inheritance in Man; September 20,2011; https://www.omim.org/entry/600223.
          3. Bird TD. Hereditary Ataxia Overview. GeneReviews; March 3, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1138/.
          4. Hellenbroich Y1, Gierga K, Reusche E, Schwinger E, Deller T, de Vos RA, Zühlke C, Rüb U.. Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.. Journal of Neural Transmission; July 2006; 113(7):829-843. https://www.ncbi.nlm.nih.gov/pubmed/16362839.
          5. Flanigan K1, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptácek LJ. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. American Journal of Human Genetics; August 1996; 59(2):392-399. https://www.ncbi.nlm.nih.gov/pubmed/8755926.
          6. Edener U1, Bernard V, Hellenbroich Y, Gillessen-Kaesbach G, Zühlke C. Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic. Journal of Neurology; July 2011; 258(7):1223-1227. https://www.ncbi.nlm.nih.gov/pubmed/21267591.