FÜR MENSCHEN MIT SMA HAT SICH DIE VERSORGUNGSQUALITÄT DEUTLICH VERBESSERT24,25


Die aktuelle Forschung liefert laufend neue wissenschaftliche Erkenntnisse zur SMA
und zu den Behandlungsmöglichkeiten.24–26
 
In den letzten Jahren wurde umfangreiche Untersuchungen zur SMA durchgeführt:27–30

 

 

Dieses Wachstum hat weitreichende Veränderungen in der Therapie und im Management der SMA bewirkt.24,25

 

DIE BEHANDLUNGSLEITLINIEN WURDEN AKTUALISIERT

2007 wurden erstmals Leitlinien zur Behandlung der spinalen Muskelatrophie (SMA) veröffentlicht.
Seitdem gibt es immer mehr Belege dafür, dass die Lebensqualität von Menschen mit SMA steigt.

2017 gab es Änderungen im Management und in der Behandlung der SMA.  Diese helfen Ihnen, Ihren Betreuern und  Ihren Ärzten und Pflegekräften, die verschiedenen Aspekte bei der Betreuung von Menschen mit SMA zu verstehen.25,26

*Bis 18. November 2019

Referenzen

1. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133. 2. Wang CH, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. 3. National Institute of Neurological Disorders and Stroke. Motor Neuron Disease Fact Sheet. 2012. Available at: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Motor-Neuron-Diseases-Fact-Sheet. Accessed January 9, 2017. 4. Genetics Home Reference. SMN1 gene. 2012. Available at: https://ghr.nlm.nih.gov/gene/SMN1. Accessed January 9, 2017. 5. Genetics Home Reference. SMN2 gene. 2012. Available at: https://ghr.nlm.nih.gov/gene/SMN2. Accessed January 9, 2017. 6. Jones et al. Systematic review of incidence and prevalence of spinal muscular atrophy (SMA). European Journal of Paediatric Neurology. 2015;19(supp. 1):S64–S65. 7. Finkel R, et al. 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands. Neuromuscul Disord. 2015;25(7):593-602. 8. Cure SMA. At School. 2016. Available at: http://www.curesma.org/support-care/living-with-SMA/daily-life/at-school/. Accessed January 9, 2017. 9. National Organization for Rare Disorders. Werdnig-Hoffman Disease. 2012. Available at: https://rarediseases.org/rare-diseases/werdnig-hoffmann-disease/. Accessed January 9, 2017. 10. Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol. 2007;22(8):974-978. 11. Cure SMA. Cure SMA Medical Provider Information Kit. Available at: http://www.curesma.org/documents/support--care-documents/2016-sma-awareness-mpak.pdf. Accessed January 9, 2017. 12. Cherry JJ, et al. Identification of novel compounds that increase SMN protein levels using an improved SMN2 reporter cell assay. J Biomol Screen. 2012;17(4):481-495. 13. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd Ed. London, UK: Elsevier; 2015. 14. Prior TW. Perspectives and diagnostic considerations in spinal muscular atrophy. Genet Med. 2010;12(3):145-152. 15. TREAT-NMD. Diagnostic testing and care of new SMA patients. Available at: http://www.treat-nmd.eu/downloads/file/standardsofcare/sma/english/sma_soc_en.pdf. Accessed January 9, 2017. 16. National Organization for Rare Disorders. Spinal Muscular Atrophy. 2012. Available at: https://rarediseases.org/rare-diseases/#causes. Accessed January 9, 2017. 17. Quest Diagnostics. SMA Carrier Screen. 2013. Available at: http://www.questdiagnostics.com/testcenter/testguide.action%3Fdc%3DTS_SMA. Accessed January 9, 2017. 18. Arkblad E, et al. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 2009;98(5):865-872. 19. Jedrzejowska M, et al. Incidence of spinal muscular atrophy in Poland--more frequent than predicted? 2010;34(3):152-157. 20. Prior TW. Spinal muscular atrophy: a time for screening. Curr Opin Pediatr. 2010;22(6):696-702. 21. Sugarman EA, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012 Jan;20(1):27-32. 22. Ogino S, Wilson RB. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn. 2004 Jan;4(1):15-29. 23. Norwood et al, Prevalence of genetic muscle disease in Northern England. Brain. 2009;132(Pt 11):3175-86. 24. ENMC SMA Workshop Study Group (2017) ‘218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016. Mercuri E et al., Neuromuscul Disord. 2018, 28:103–115 , Finkel RS et al., Neuromuscul Disord. 2018, 28:197–207