Spinocerebellar ataxia 28
Other Names for this Disease
- Spinocerebellar ataxia type 28
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dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles that control eye movement (ophthalmoparesis), uncontrolled movement of the eye (nystagmus) and drooping eyelid (ptosis). The symptoms worsen very slowly over time. SCA28 is caused by changes in the AFG3L2 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA28, but treatments are available to help manage symptoms.Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (
Last updated: 5/17/2016
- Brussino A, Brusco A, and Dürr A. Spinocerebellar Ataxia Type 28. GeneReviews. February 7 2013; https://www.ncbi.nlm.nih.gov/books/NBK54582/.
- Mariotti C, Bella DD, Di Donato S, and Taroni F. Spinocerebellar Ataxia Type 28. Handb Clin Neurol. 2012; 103:575-579. http://www.ncbi.nlm.nih.gov/pubmed/21827917.
- Qu J, Wu CK, Zuzuárregui JR, and Hohler AD. A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28. J Neurol Sci. November 15 2015; 358(1-2):530-531. http://www.ncbi.nlm.nih.gov/pubmed/26454370.
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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.
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