[Rigid spine syndrome].
Data of the clinical and laboratory examinations of 6 children (4 girls and 2 boys) with the syndrome of rigid vertebral column are presented. In half of them the syndrome appeared to be of family character. An analysis of the family history data pointed to the recessive type of the syndrome inheritance. The disease manifested itself in an impairment of the axial muscles (because of which the flexion of the neck and the trunk got sharply limited), a slight myopathic syndrome, scoliosis and cardiomyopathy. Histochemical examinations of biopsy specimens taken from the affected muscles showed prevalence of type I fibres and proliferation of the connective tissue. The data obtained were compared with those described in literature earlier, as well as with those obtained from patients with clinically similar forms, e. g. Rotauf's myodystrophy and multipivotal myopathy.
D000293:Adolescent; D001415:Back; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D012600:Scoliosis / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
D003402:Creatine Kinase
Sindrom rigidnogo pozvonochnika.