Spinal muscular atrophy screening

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

Overview

Carrier testing[1], [2], [3] - Carrier testing helps to identify carriers of the mutated genes (SMN, survival motor neuron gene). This can help to predict the risk of SMA in future pregnancies in the carriers.


  • PCR-based dosage assay – Detect carriers with homozygous deletions or compound heterozygosity.
  • Sequencing of the SMN gene - Detect point mutations.


New Born screening[3] may help to identify pre-symptomatic individuals and institution of early treatment (once it becomes available). This can prevent the occurrence of severe disease forms in future.


References

  1. McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR; et al. (1997). "Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number". Am J Hum Genet. 60 (6): 1411–22. doi:10.1086/515465. PMC 1716150. PMID 9199562.
  2. Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schöneborn S (2005). "Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene". Eur J Hum Genet. 13 (3): 309–13. doi:10.1038/sj.ejhg.5201268. PMID 15586177.
  3. 3.0 3.1 Prior TW (2007). "Spinal muscular atrophy diagnostics". J Child Neurol. 22 (8): 952–6. doi:10.1177/0883073807305668. PMID 17761649.

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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