Facioscapulohumeral neuromuscular syndromes--problems of differential and early diagnosis and genetic counseling

Among 20 kinships affected by facioscapulohumeral and scapulohumeroperoneal neuromuscular syndromes 6 probands with autosomal dominant transmission and 5 obviously sporadic cases revealed myopathic changes on biopsy and were classified to have facioscapulohumer (operone)al muscle dystrophies. 5 autosomal dominant cases and one sporadic case with neurogenic muscle changes and 3 other non-dystrophic phenocopies emphasize the necessity of muscle biopsy for nosological assignment. Definite correlations between mode of inheritance, clinical and morphological findings could not be found. Pathological ultrasound and EMG findings in parents and children of seemingly sporadic cases suggest to assume autosomal dominant inheritance with incomplete penterance in such cases.