FÜR MENSCHEN MIT SMA HAT SICH DIE VERSORGUNGSQUALITÄT DEUTLICH VERBESSERT24
Die aktuelle Forschung liefert laufend neue wissenschaftliche Erkenntnisse zur SMA
und zu den Behandlungsmöglichkeiten.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.24,25
SIE STEHEN IM MITTELPUNKT DER BETREUUNG.
*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. Letzter Zugriff: Sept. 2020. 4. Genetics Home Reference. SMN1 gene. 2012. Available at: https://ghr.nlm.nih.gov/gene/SMN1. Letzter Zugriff: Sept. 2020. 5. Genetics Home Reference. SMN2 gene. 2012. Available at: https://ghr.nlm.nih.gov/gene/SMN2. Letzter Zugriff: Sept. 2020. 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. School. https://curesma.wpengine.com/teens-and-adults/ Letzter Zugriff: Sept. 2020. 9. National Organization for Rare Disorders. Werdnig-Hoffman Disease. 2012. Available at: https://rarediseases.org/rare-diseases/werdnig-hoffmann-disease/. Letzter Zugriff:Sept. 2020. 10. Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol . 2007;22(8):974-978. 11. Cure SMA. Types of SMA. https://www.curesma.org/types-of-sma/ Letzter Zugriff: Sept. 2020. 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. Letzter Zugriff: Sept. 2020. 16. National Organization for Rare Disorders. Spinal Muscular Atrophy. 2012. Available at: https://rarediseases.org/rare-diseases/#causes. Letzter Zugriff: Sept. 2020. 17. Quest Diagnostics. SMA Carrier Screen. 2013. Available at: http://www.questdiagnostics.com/testcenter/testguide.action%3Fdc%3DTS_SMA. Letzter Zugriff: Sept. 2020. 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? Neuroepidemiology. 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. Mercuri E et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115. 25. Finkel RS et al., Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems and ethics. Neuromuscul Disord. 2018, 28:197-207. 26. Juntas Morales R et al. Adult-onset spinal muscular atrophy: An update. Rev Neurol (Paris). 2017;173(5):308-319. 27. National Center for Biotechnology Information. PubMed website. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=(((spinal)+AND+muscular)+AND+atrophy)+AND+(%222018%2F01%2F01%22%5BDate+-+Publication%5D+%3A+%222018%2F12%2F31%22%5BDate+-+Publication%5D). Letzter Zugriff: September 2020. 28. National Center for Biotechnology Information. PubMed website. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=(((spinal)+AND+muscular)+AND+atrophy)+AND+(%222010%2F01%2F01%22%5BDate+-+Publication%5D+%3A+%222010%2F12%2F31%22%5BDate+-+Publication%5D). Letzter Zugriff: September 2020. 29. ClinicalTrials.gov Search for ‘Recruiting, Active, not recruiting, Enrolling by invitation Studies | Spinal Muscular Atrophy’ Available at: https://clinicaltrials.gov/ct2/results?cond=Spinal+Muscular+Atrophy&Search=Apply&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=. Letzter Zugriff: September 2020.