Facioskapulohumerální muskulární dystrofie Landouzyho-Dejerineova s projevy pleiotropického efektu genu

Facioscapulohumeral muscular dystrophy (FSHD) type Landouzy-Dejerine is manifested in the majority of cases with slowly progressive muscular disorder. In our 7 patients with FSHD (6 males and 1 female) a specific mutationin region 4q35 was detected, all cases were due to a new dominant mutation. High-tone deafness and peripheral retinal capillary abnormalities with teleangiectasia and microaneurysms were found in the youngest patient before muscular manifestations. The mutation in the same gene in all our patients represents pleiotropism. This report will emphasize the necessity to respect the complexity of whole spectrum of features in the diagnostic process as well as in medical care of patients with FSHD.