Distale Myopathien

ZUSAMMENFASSUNG

Distale Myopathien stellen eine heteroge Gruppe von Erkrankungen dar, die sich durch einen prädominanten Befall körperferner Muskelgruppen auszeichnen und zunächst innerhalb weniger klinischer Phänotypen unter Verwendung von Eponymen klassifiziert worden sind. Genetische Hochdurchsatzverfahren haben das genotypische Spektrum der distalen Myopathien in den letzten Jahren erheblich erweitert. Ausgehend vom historischen Kontext wird die aktuelle Klassifikation distaler Myopathien vorgestellt, häufige Krankheitsbilder diskutiert und das diagnostische Vorgehen anhand eines strukturierten Handlungspfades erörtert.

ABSTRACT

Distal myopathies represent a heterogeneous group of muscular disorders that show a predominant involvement of distal limb muscles. In the past they were classified based on clinical phenotypes by use of eponyms. Recently, high-throughput methods have significantly expanded the genotypic spectrum of this disease entity. Based on the historical context the current classification of distal myopathies is presented, common clinical pictures are discussed and the diagnostic procedure based on a structured diagnostic pathway is described.

Schlüsselwörter

Distale Myopathie - Klassifikation - Diagnostik

Key words

Distal myopathy - classification - diagnostic procedure

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