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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spinal muscular atrophy


Overview

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 atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases.[1][2][3] 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.[4] Treatment is based on the signs and symptoms present in each person.[5][2]
Last updated: 1/7/2016

References

  1. Learning About Spinal Muscular Atrophy. National Human Genome Research Institute. 2012; http://www.genome.gov/20519681.
  2. Spinal muscular atrophy. MedlinePlus. February 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000996.htm.
  3. Spinal Muscular Atrophy. National Organization for Rare Disorders. 2012; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Spinal+Muscular+Atrophy.
  4. Spinal muscular atrophy. Genetics Home Reference (GHR). January 2013; http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy.
  5. Bryan Tsao, MD. Spinal Muscular Atrophy. Medscape Reference. December 2015; http://emedicine.medscape.com/article/1181436-overview.
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Basic 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. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about 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.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinal muscular atrophy. Click on the link to view a sample search on this topic.
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