The myogenic scapulo-peroneal syndrome. Muscular dystrophy in the K. kindred: Clinical study and genetics

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Abstract
Six generations belonging to 1 family kindred were investigated. Eighteen members of this kindred were studied. In the early stages of the disease a sharp dissimilarity was observed in the phenotypes in the kindred, resulting from different rates of development and varying intensity in the course of the disease, so that it ranges from evident scapulo-peroneal amyotrophy to cases resembling Landouzy-Dejerine muscular dystrophy. In the later stages of the disease the clinical data on those affected were noted to be very similar. Muscular dystrophy in the kindred was inherited as an autosomal-dominant type for 5 generations. The penetrance of the gene is almost complete. The expressivity of the gene varies from abortive to severe forms of the disease. From the clinical and genetic data available at the present time, is seems that the muscular dystrophy in the kindred is one of the varieties (manely, a decending type with a jump of the facio-scapulo-limb (or facioscapulohumeral) muscular dystrophy. The scapulo-peroneal syndrome could be a long stage in the development of the disorder in some members of the kindred. As well as muscular dystrophy, some muscle anomalies were independently inherited in the kindred. Apparently, muscular dystrophy and muscle defects are caused by the non-allele genes; this ensures the independent distribution of these signs among the members of the kindred.