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Spinal muscular atrophy

From Wikipedia
spinal muscular atrophy
designated intractable/rare disease, class of disease
Subclass ofmotor neuron disease, spinal muscular atrophies, disease Edit
Health specialtyneurology Edit
Drug or therapy used for treatmentnusinersen Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/135 Edit
ICD-9-CM335.1, 335.10 Edit
NCI Thesaurus IDC85075 Edit

Spinal muscular atrophy (SMA) be a rare neuromuscular disorder wey dey result in de loss of motor neurons den progressive muscle wasting.[1][2][3] E be usually diagnosed insyd infancy anaa early kiddie time den if dem lef am untreated e be de most common genetic cause of infant death.[4] E sanso fi appear later insyd life den then get a milder course of de disease. De common feature be de progressive weakness of voluntary muscles, plus de arm, leg, den respiratory muscles be affected first.[5][6] Associated problems fi include poor head control, difficulties swallowing, scoliosis, den joint contractures.[6][7]

De age of onset den de severity of symptoms dey form de basis of de traditional classification of spinal muscular atrophy into chaw types.[2]

Spinal muscular atrophy be secof an abnormality (mutation) insyd de SMN1 gene[7][8] wich dey encode SMN, a protein necessary for de survival of motor neurons.[6] Loss of dese neurons insyd de spinal cord dey prevent signalling between de brain den skeletal muscles.[6] Anoda gene, SMN2, be considered a disease modifying gene, since usually de more SMN2 copies be present, de milder be de course of de disease. De diagnosis of SMA be based on symptoms den confirmed by genetic testing.[8][9]

Usually, de mutation insyd de SMN1 gene be inherited from both parents insyd an autosomal recessive manner, although insyd around 2% of cases e dey occur during early development (de novo).[8][10] De incidence of spinal muscular atrophy worldwide dey vary from about 1 insyd 4,000 births to around 1 insyd 16,000 births,[11] plus 1 insyd 7,000 den 1 insyd 10,000 dem commonly quote for Europe den de US respectively.[7]

Outcomes insyd de natural course of de disease dey vary from death within a few weeks after birth insyd de most acute cases to normal life expectancy insyd de protracted SMA forms.[6] Medications wey dey target de genetic cause of de disease dey include nusinersen, risdiplam,[12] den de gene therapy medication onasemnogene abeparvovec. Supportive care dey include physical therapy, occupational therapy, respiratory support, nutritional support, orthopaedic interventions, den mobility support.[8]

References

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  1. ↑ "Spinal muscular atrophy". nhs.uk (in English). 2017-10-23. Retrieved 2020-10-24.
  2. 1 2 "Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov (in English). Retrieved 2020-10-24.
  3. ↑ "Spinal Muscular Atrophy (SMA) | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2020-10-25.
  4. ↑ "FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality". FDA (in English). 24 May 2019. Archived from the original on 24 May 2019. Retrieved 27 May 2019.
  5. ↑ "Spinal Muscular Atrophy Fact Sheet | National Institute of Neurological Disorders and Stroke". NINDS. Retrieved 27 May 2019.
  6. 1 2 3 4 5 "Spinal muscular atrophy". Genetics Home Reference (in English). Retrieved 27 May 2019.
  7. 1 2 3 "Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019.
  8. 1 2 3 4 "Spinal muscular atrophy". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 27 May 2019.
  9. ↑ "Spinal Muscular Atrophy – Conditions | Children's National". childrensnational.org. Retrieved 2020-10-25.
  10. ↑ Prior, Thomas W.; Leach, Meganne E.; Finanger, Erika (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Spinal Muscular Atrophy", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301526, retrieved 2020-10-25
  11. ↑ Verhaart, Ingrid E. C.; Robertson, Agata; Leary, Rebecca; McMacken, Grace; König, Kirsten; Kirschner, Janbernd; Jones, Cynthia C.; Cook, Suzanne F.; Lochmüller, Hanns (July 2017). "A multi-source approach to determine SMA incidence and research ready population". Journal of Neurology (in English). 264 (7): 1465–1473. doi:10.1007/s00415-017-8549-1. ISSN 0340-5354. PMC 5502065. PMID 28634652.
  12. ↑ US9879007B2, Qi, Hongyan; Choi, Soongyu & Dakka, Amal et al., "Compounds for treating spinal muscular atrophy", issued 2018-01-30

Read further

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  • Parano E, Pavone L, Falsaperla R, Trifiletti R, Wang C (August 1996). "Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy". Annals of Neurology. 40 (2): 247–51. doi:10.1002/ana.410400219. PMID 8773609. S2CID 42514712.
  • Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A (August 2007). "Consensus statement for standard of care in spinal muscular atrophy". Journal of Child Neurology. 22 (8): 1027–49. doi:10.1177/0883073807305788. PMID 17761659. S2CID 6478040.
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