Was gibt es Neues bei Myopathien?

Zusammenfassung

Myopathien sind heterogene Erkrankungen, deren Leitsymptom Muskelschwäche durch eine Vielzahl funktioneller und struktureller Schäden der Muskulatur verursacht werden kann. Entsprechend der Heterogenität der Krankheitsbilder ist die Differenzialdiagnose von Myopathien komplex. Das Erkennen bestimmter Verteilungsmuster, Symptomkonstellationen und Organbeteiligungen ist wesentlich, um erworbene von hereditären Formen zu unterscheiden. Neue Entwicklungen bei serologischen und genetischen Testverfahren, insbesondere auf dem Gebiet idiopathischer inflammatorischer Myopathien und der Muskeldystrophien, sind hilfreich für die Diagnostik und führen zu einem besseren Verständnis der Krankheitsmechanismen.

Abstract

Myopathies represent a heterogeneous group of diseases with the clinical hallmark of muscle weakness caused by a multitude of functional or structural muscle injuries. Due to the heterogeneity of clinical manifestations, the differential diagnosis of myopathies is complex. Recognition of the pattern of weakness, additional symptoms, and organ manifestations is mandatory for the delineation of acquired myopathies from hereditary forms. Recent advances in serological and genetic testing, particularly in the field of idiopathic inflammatory myopathies as well as muscle dystrophies have improved the diagnosis and understanding of disease mechanisms.

Schlüsselwörter

Myopathie - Myositis - Autoantikörper - Muskeldystrophie - Genetik

Keywords

myopathy - myositis - autoantibodies - muscular dystrophy - genetics

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