Spinocerebellar ataxia 15
Other Names for this Disease
- Spinocerebellar ataxia type 15
- SCA16 (formerly)
- Spinocerebellar ataxia 16 (formerly)
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ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb
Last updated: 1/22/2013
- Storey E. Spinocerebellar Ataxia Type 15. GeneReviews. April 2011; http://www.ncbi.nlm.nih.gov/books/NBK1362/. Accessed 1/22/2013.
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- 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.
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