Zusammenfassung
Die Muskeldystrophien sind eine heterogene Gruppe genetisch determinierter Krankheiten mit progressivem Skelettmuskelschwund, bei denen in der Regel entsprechende (gravierende) Veränderungen am zentralen oder peripheren Nervensystem fehlen. Die verschiedenen Formen der Muskeldystrophie unterscheiden sich hinsichtlich Genetik, Krankheitsbeginn, Krankheitsbild, Verlauf, Pathomorphologie und Topik voneinander. Je rascher der Verlauf, je zahlreicher die akuten Muskelfasernekrosen desto stärker ist als wichtiger klinischer Parameter die Kreatinkinase (CPK)-Reaktion im Serum erhöht. Eine Muskelbiopsie erlaubt eine Differenzierung oder gibt die Richtung für spezifische genetische Analysen vor. Zu differenzieren sind: X-chromosomal erbliche Muskeldystrophien, fazioskapulohumerale Muskeldystrophien, Muskeldystrophien vom Gliedergürteltyp, hereditäre myofibrilläre Myopathien und die Plektin-Myopathie, kongenitale Muskeldystrophien, Myopathien mit besonderer Vorzugslokalisation: distale, okuläre und okulopharyndeale Myopathien, sowie verschiedene Formen der Arthrogryposis multiplex congenita, in bestimmten Fällen als Fetale Akinesia-deformans-Sequenz (FADS) interpretiert.
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Schröder, J. (2012). Muskeldystrophien. In: Klöppel, G., Kreipe, H., Remmele, W., Paulus, W., Schröder, J. (eds) Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02324-8_30
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