Spinocerebellar ataxia 4
Other Names for this Disease
- Spinocerebellar ataxia type 4
- Spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy
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atrophy) and difficulty coordinating body movements (ataxia), most notably causing a jerky, unsteady walking style (gait) and difficulty speaking (dysarthria). A distinctive feature of SCA4 is the progressive loss of feeling or sensation in the hands and feet (peripheral neuropathy) and loss of reflexes. Degeneration of the area of the brain controlling balance and movement (cerebellar atrophy) causes symptoms to worsen over decades. The symptoms of SCA4 typically begin during the fourth or fifth decade of life, but can begin as early as the late teen years.. 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. 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.Spinocerebellar ataxia 4 (SCA4) is a very rare form of hereditary progressive movement disorder. Symptoms include muscle weakness (
Last updated: 7/24/2016
- Thomas Bird. Autosomal Dominant Hereditary Ataxia. National Organization for Rare Disorders; 2014; http://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/.
- Cassandra L. Kniffin and Victor A. McKusick. Spinocerebellar Ataxia 4; SCA4. Online Mendelian Inheritance in Man; September 20,2011; http://www.omim.org/entry/600223.
- Thomas D Bird, MD. Hereditary Ataxia Overview. GeneReviews; March 3, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1138/.
- 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.
- 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.
- 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.
- 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.
- 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.