[Sporadic distal myopathy]. / Sporadicheskaia distal'naia miopatiia.

The presented description of two cases of sporadic distal myopathy represents the first report on this disease published in the national literature. The clinical picture of the disease was consistent with that of five patients with this disease entity described in the world literature and was characterized by the disease onset in young age expressed in the form of distal muscular atrophies, a dramatic increase in the activity of serum creatine kinase, with electromyographic, histologic and electron microscopic findings indicating the presence of the myopathic process. A differential diagnosis from other diseases manifesting themselves in distal muscular atrophies is also outlined.

[Ophthalmoplegia-plus (multisystem mitochondrial cytopathy) in childhood]. / Oftal'moplegiia-plius (multisistemnaia mitokhondrial'naia tsitopatiia) v detskom vozraste.

Two cases of ophthalmoplegia-plus are described for the first time in the national literature. The clinical picture of both patients aged 7 and 15 years exhibited a characteristic triad: external ophthalmoplegia, retinitis pigmentosa and heart conduction impairments. In one patient, this triad was supplemented by neurosensory deafness, torsion dystonia and the myopathic syndrome, and in the other one, by ichthyosis, cerebellar symptomatology, the myopathic syndrome and a marked elevation of protein in the cerebrospinal fluid. In both patients, the diagnosis was supported by electron microscopic studies of a muscular biopsy-specimen which disclosed pronounced changes in the number, structure, size and form of mitochondria as well as the presence of glycogen and lipid drops accumulating near mitochondria.

[Rigid spine syndrome]. / Sindrom rigidnogo pozvonochnika.

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.

[Skeletal muscles in neuromuscular diseases]. / Skeletnye myshtsy pri nervno-myshechnykh zabolevaniiakh.

The paper offers recommendations concerning the specificity of biopsies withdrawn from skeletal muscles and histologic criteria for diagnosis of various forms of neurogenic atrophies, injuries, myositis, and myasthenia gravis.

[The muscular syndrome in chronic polymyositis]. / Myshechnyi sindrom pri khronicheskom polimiozite

The authors conducted a clinico-neurological examination of 16 patients with a muscular syndrome which developed against the background of chronic polymyositis. The muscular bioptate demonstrated a combination of atrophical, dystrophical and necrobiotical processes. The prevalent atrophical processes had the character of denervational atrophy.