Spinal Muscular atrophy epidemiology and demographics

	Spinal Muscular Atrophy Microchapters
Home
Patient Info
Overview
Epidemiology and Demographics
Risk Factors
Screening
Other forms
Molecular Biology
Genetics
Types
Diagnosis
Diagnosis
Full Differential Diagnosis
Symptom
Physical Examination
Electrolyte & Biomarker Studies
Electrocardiogram
Chest X Ray
MRI and CT
Echocardiography or Ultrasound
Other Imaging Findings
Pathology
Other Diagnostic Studies
Treatment
Outcome measures
Therapeutics development
Indications For Surgery
Research
Pre-Operative Assessment
Post-Operative Assessment
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Spinal Muscular atrophy epidemiology and demographics Resources
Most recent articles on Spinal Muscular atrophy epidemiology and demographics
Most cited articles on Spinal Muscular atrophy epidemiology and demographics
Review articles on Spinal Muscular atrophy epidemiology and demographics
Review articles on Spinal Muscular atrophy epidemiology and demographics
CME Programs on Spinal Muscular atrophy epidemiology and demographics
Powerpoint slides on Spinal Muscular atrophy epidemiology and demographics
Images of Spinal Muscular atrophy epidemiology and demographics
Ongoing Trials on Spinal Muscular atrophy epidemiology and demographics at Clinical Trials.gov
US National Guidelines Clearinghouse on Spinal Muscular atrophy epidemiology and demographics
NICE Guidance on Spinal Muscular atrophy epidemiology and demographics
FDA on Spinal Muscular atrophy epidemiology and demographics
CDC on Spinal Muscular atrophy epidemiology and demographics
Spinal Muscular atrophy epidemiology and demographics in the news
Blogs on Spinal Muscular atrophy epidemiology and demographics
Directions to Hospitals Treating Spinal Muscular atrophy epidemiology and demographics
Risk calculators and risk factors for Spinal Muscular atrophy epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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]

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[edit | edit source]

↑ 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.CS1 maint: PMC format (link)
↑ 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.
↑ 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.
↑ 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.
↑ 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[edit | edit source]

Template: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

Template:Diseases of the nervous system

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

Template:WikiDoc Sources

[pmid745211-1] 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.CS1 maint: PMC format (link)

[pmid12116201-2] 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.

[pmid1608493-3] 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.

[pmid11839954-4] 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.

[pmid16116135-5] 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.

[1]

[2]

[3]

[4]

[5]