Update Distale Myopathien

Zusammenfassung

Die Distalen Myopathien umfassen eine Gruppe von genetisch determinierten Muskelerkrankungen bei denen Paresen und eine fortschreitende Atrophie der distalen Muskelgruppen im Vordergrund stehen. Der klinische Phänotyp, der Erkrankungsbeginn, der Vererbungsmodus sowie histologische Veränderungen helfen die einzelnen Formen zu differenzieren. Das klinische und genetische Spektrum ist allerdings heterogen. In den letzten Jahren hat durch die erweiterte genetische Diagnostik die Anzahl der nachgewiesenen Mutationen exponentiell zugenommen. Im folgenden Beitrag werden die Klassifikation, die klinischen Besonderheiten und die relevanten genetischen Aspekte dargestellt.

Abstract

Distal myopathies comprise a group of genetically determined muscle diseases with paresis and progressive atrophy of distal muscles. The clinical phenotype, onset of disease, mode of inheritance, and histologic features help differentiate between the individual forms. The clinical and genetic spectrum is heterogeneous. In recent years, the number of detected mutations has increased exponentially thanks to advanced genetic diagnostics. This article describes the classification, clinical features and relevant genetic aspects of this group of disorders.

Schlüsselwörter

distale Myopathie - Klassifikation - Diagnostik - Vorgehen

Key words

distal myopathy - classification - diagnosis - clinical approach

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