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Die Therapieoptionen haben sich in den letzten Jahren entscheidend ver\u00e4ndert. Gro\u00dfen Anteil daran haben neue molekulare Therapieans\u00e4tze, die den direkten gentherapeutischen Ersatz des fehlenden Gens erm\u00f6glichen oder eine alternative Prozessierung des betroffenen Gens bzw. eines verwandten (Pseudo)Gens bewirken.<\/jats:p><jats:p>Vor allem der Verlauf der 5q-assoziierten spinalen Muskelatrophie hat sich durch die Verf\u00fcgbarkeit solcher kausalen Therapien deutlich ver\u00e4ndert, w\u00e4hrend f\u00fcr die meisten Muskelerkrankungen die Ergebnisse laufender Studien noch ausstehen. Als erreichbares Therapieziel muss im Bereich der neuromuskul\u00e4ren Erkrankungen die Verlangsamung der Progredienz, aber nicht die vollst\u00e4ndige Heilung angesehen werden. Aktuell sind nur limitierte Erfahrungen verf\u00fcgbar. Insbesondere die langfristige Effektivit\u00e4t und die m\u00f6glichen Risiken sind noch unbekannt. Daher sollten diese Therapien unbedingt unter streng \u00fcberwachten Bedingungen zur Anwendung kommen.<\/jats:p>","DOI":"10.1007\/s00103-020-03165-0","type":"journal-article","created":{"date-parts":[[2020,6,15]],"date-time":"2020-06-15T17:02:34Z","timestamp":1592240554000},"page":"891-897","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Molekulare Therapien bei neuromuskul\u00e4ren Erkrankungen im Kindesalter \u2013 Gro\u00dfe Hoffnungen und unbekannte Risiken","Molecular therapies in childhood neuromuscular disorders\u2013definite hope versus unknown pitfalls"],"prefix":"10.1007","volume":"63","author":[{"given":"Astrid","family":"Blaschek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharina","family":"Vill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,6,15]]},"reference":[{"issue":"1","key":"3165_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/jpm9010001","volume":"9","author":"Y Shimizu-Motohashi","year":"2019","unstructured":"Shimizu-Motohashi\u00a0Y, Komaki\u00a0H, Motohashi\u00a0N et al (2019) Restoring dystrophin expression in Duchenne muscular dystrophy: current status of therapeutic approaches. 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