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Spinal muscular atrophy

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Overview


Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.[1][2] 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.[3][4] Spinal muscular atrophy is divided into subtypes based on the severity of the disease and the age when symptoms first appear.[1][3] It is usually inherited as an autosomal recessive trait.[1]



References

  1. Learning About Spinal Muscular Atrophy. National Human Genome Research Institute (NHGRI). http://www.genome.gov/20519681. Accessed April 21, 2010.
  2. Kaneshiro NK, Hoch DB. Spinal muscular atrophy. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm. Accessed April 21, 2010.
  3. Spinal muscular atrophy. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. Accessed May 13, 2011.
  4. Russman B. Spinal Muscular Atrophy. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Spinal+Muscular+Atrophy. Accessed April 21, 2010.
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General Information

  • 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. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 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.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.