Myogenic scapuloperoneal syndrome - muscular dystrophy in the K. kindred. Reexamination of the K. family described for the first time by Oransky in 1927.
Additional study of six generations belonging to the K. kindred, which were previously investigated by Oransky in 1927 was carried out. 18 members of this kindred were studied. At the early stages of the disease a sharp dissimilarity of the phenotypes in the K. kindred resulting from the different rate of the development and intensity in the course of the disease was observed, varying from evident scapuloperoneal amyotrophy to the cases resembling Landouzy-Déjerine muscular dystrophy. At the late stages of the disease a considerable clinical simularity of those affected was noted. The clinical and genetic data allowed at the present time to consider the muscular dystrophy in the K. kindred as one of the varieties (namely, as a descending type with a "jump") of the facio-scapulo-limb (or facioscapulohumeral) muscular dystrophy. The scapuloperoneal syndrome could be a long stage in the development of the disorder in some members of the K. kindred.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005152:Facial Muscles; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007866:Leg; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D010375:Pedigree; D010641:Phenotype; D012782:Shoulder; D013577:Syndrome