Spinal muscular atrophy epidemiology and demographics

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Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview

  • Incidence of SMA – 1 in 6,000 – 10,000 live births or 7.8-10 per 100,000 live births .
  • Carrier frequency for SMN 1 gene mutation is 1:38 to 1:50. [1], [2], [3], [4]
  • 7.5 million Americans are carriers.
  • A 2005 study in Cuba found a reduced incidence of Type I SMA amongst the Cuban population overall, (3.53 per 100,000 live births) and especially amongst those of African ancestry (0.89 to 0.93 per 100,000 live births) [5].


References

  1. Pearn J (1978). "Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy". J Med Genet. 15 (6): 409–13. PMC 1013753. PMID 745211.
  2. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB (2002). "Genetic risk assessment in carrier testing for spinal muscular atrophy". Am J Med Genet. 110 (4): 301–7. doi:10.1002/ajmg.10425. PMID 12116201.
  3. Mostacciuolo ML, Danieli GA, Trevisan C, Müller E, Angelini C (1992). "Epidemiology of spinal muscular atrophies in a sample of the Italian population". Neuroepidemiology. 11 (1): 34–8. PMID 1608493.
  4. Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B; et al. (2002). "Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2". Genet Med. 4 (1): 20–6. PMID 11839954.
  5. Zaldívar T, Montejo Y, Acevedo AM, Guerra R, Vargas J, Garofalo N; et al. (2005). "Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population". Neurology. 65 (4): 636–8. doi:10.1212/01.wnl.0000172860.41953.12. PMID 16116135.

External links

  • sma at NINDS
  • SMA Support
  • Spinal Muscular Atrophy - Fight SMA - An international nonprofit dedicated to finding a treatment or cure for spinal muscular atrophy. Visit Fight SMA's website and also the Spinal Muscular Atrophy Blog for the latest news and research information about the leading genetic killer of children under two.
  • Families of Spinal Muscular Atrophy - An international nonprofit dedicated to advancing research and supporting individuals and families with sma. FSMA has a web site with news, information and message boards for individuals to post questions. FSMA is one of the largest US private funders of SMA research and has more than 30 chapters worldwide.FSMA
  • SMA Trust - a UK registered charity working to fund medical research into Spinal Muscular Atrophy
  • Jennifer Trust for Spinal Muscular Atrophy - A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition

da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi



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