Spinal muscular atrophy
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases, the muscles used for breathing and swallowing are affected. Spinal muscular atrophy is divided into subtypes based on the severity of the disease and the age when symptoms first appear. It is usually inherited as an autosomal recessive trait.
- Learning About Spinal Muscular Atrophy. National Human Genome Research Institute (NHGRI). October 19, 2009; http://www.genome.gov/20519681. Accessed 4/21/2010.
- Kaneshiro NK, Hoch DB. Spinal muscular atrophy. MedlinePlus. December 17, 2008; http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm. Accessed 4/21/2010.
- Spinal muscular atrophy. Genetics Home Reference (GHR). December 2009; http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. Accessed 5/13/2011.
- Russman B. Spinal Muscular Atrophy. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Spinal+Muscular+Atrophy. Accessed 4/21/2010.
- 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).
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