Zusammenfassung
Muskeldystrophien (MD) sind eine heterogene Gruppe genetisch determinierter, progredienter
Erkrankungen der Muskulatur. Gemeinsames Merkmal aller Muskeldystrophien ist eine
fortschreitende Muskelschwäche und -atrophie, deren Schweregrad und Verteilungsmuster
bei den verschiedenen MD-Formen allerdings deutliche Unterschiede zeigt. Infolge der
Entdeckung immer neuer Genorte, spezifischer Gene und Genprodukte erfolgt die Klassifizierung
der Muskeldystrophien nicht mehr allein anhand klinischer Charakteristika, sondern
entsprechend den zugrunde liegenden Gendefekten. In vielen Fällen ermöglich die exakte
Diagnose Aussagen zu Verlauf und Prognose der Erkrankung. Leider stehen bislang meist
nur symptomatische und supportive Therapien zur Verfügung, darunter pharmakologische,
physiotherapeutische und chirurgische. Viel versprechende kausale Behandlungsstrategien
wie Gen- und Zelltherapie werden zurzeit entwickelt und teils mit Erfolg am Tiermodell
erprobt. Diese Übersicht fasst etablierte Therapieoptionen sowie die Perspektiven
molekularmedizinischer Ansätze zusammen.
Abstract
Muscular dystrophies (MD) are a clinically and genetically heterogeneous group of
skeletal muscle diseases. Their common features are progressive muscle wasting and
atrophy of varying degree. Since the discovery of new gene loci, genes and gene products
continues, MDs are no longer classified by their clinical features alone, but by the
underlying gene defects. In many cases, exact diagnosis enables predictions concerning
course and prognosis of the disease. Therapy is based on symptomatic and supportive
approaches, amongst them drugs, physiotherapy and surgery. Promising causal treatment
strategies like gene and cell therapy are currently being developed and some of them
are succesfully applied in animal models. This review summarizes established therapeutical
options as well as the perspectives of molecular medicine in MD.
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Priv.-Doz. Dr. Maggie C. Walter
Friedrich-Baur-Institut und Labor für Molekulare Myologie an der Neurologischen Klinik
und Poliklinik · Ludwig-Maximilians-Universität München
Ziemssenstraße 1a
80336 München
Email: maggie.walter@lrz.uni-muenchen.de
