Fazioscapulohumerale Muskeldystrophie

Facio-scapulo-humeral muscular dystophy (FSHD) is the third most frequent muscular dystrophy. The mode of inheritance is autosomal dominant. However, classical autosomal dominant pedigrees are often lacking. Besides small family size, incomplete penetrance and genetic mosaicism is the reason for that. The main symptoms and signs are to be found in the face, the humerus and the shoulder girdle. However, weakness in the legs is not an exception, most likely in patients with severe paresis in the above mentioned muscles, less often as initial or sole signs. As a consequence of this clinical variability, the correct diagnosis relies on technical methods: The differential diagnosis between neurogenic and myogenic diseases is been made by means of electromyography and muscle biopsy. The precise diagnosis of FSHD, however, can only be made by means of molecular biology.