Zusammenfassung
Hereditäre Gliedergürteldystrophien (limb girdle muscular dystrophies = LGMDs) sind eine genetisch heterogene Gruppe von Erkrankungen, die eine progrediente proximale Muskelschwäche und dystrophische Veränderungen in der Muskelbiopsie zeigen. In dieser Arbeit werden die wichtigsten klinischen und bildgebenden Unterschiede der häufigsten in Mitteleuropa vorkommenden LGMDs vorgestellt und anhand der vorgestellten Daten Vorschläge zur klinischen und bildgebenden Differenzialdiagnose gemacht, die eine weitere genetische Zuordnung erleichtern sollten.
Abstract
Hereditary limb girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of diseases that present with a progressive proximal muscle weakness and dystrophic changes in muscle biopsies. In this communication the most important clinical and imaging differences of the most frequent LGMDs in Europe will be presented. On the basis of these data proposals for the clinical and imaging differential diagnosis are made which should facilitate a further genetic diagnosis.
Key words
limb-girdle dystrophy - LGMD - MRI - CT - myopathy - muscular dystrophy - differential diagnosis
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Dirk Fischer
Muskelzentrum/ALS Clinic, Kantonsspital St. Gallen
9007 St. Gallen, Schweiz
Email: dirk.fischer@kssg.ch
