Spinal muscular atrophy
atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1 or VAPB) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and
Last updated: 1/7/2016
- Learning About Spinal Muscular Atrophy. National Human Genome Research Institute. 2012; http://www.genome.gov/20519681.
- Spinal muscular atrophy. MedlinePlus. February 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm.
- Spinal Muscular Atrophy. National Organization for Rare Disorders. 2012; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Spinal+Muscular+Atrophy.
- Spinal muscular atrophy. Genetics Home Reference (GHR). January 2013; http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy.
- Bryan Tsao, MD. Spinal Muscular Atrophy. Medscape Reference. December 2015; http://emedicine.medscape.com/article/1181436-overview.
- Families of SMA has created a booklet entitled Understanding SMA that is intended to serve as a source of information and support for children and adults with Spinal Muscular Atrophy (SMA).
- Genetics Home Reference (GHR) contains information on Spinal muscular atrophy. This website is maintained by the National Library of Medicine.
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- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
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