[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.

[Normokalemic variant of paroxysmal myoplegia]. / Normokaliemicheskii variant paroksizmal'noi mioplegii

For the first time in Soviet literature the authors describe a family where patients from 2 generations suffered from normokalemic periodical paralysis. The patients had undergone several examinations which confirmed this diagnosis. This report confirms the existence of a normopotassemic variant of periodical paralysis. The authors demonstrate the absence of a direct relation between the development of myoplegic attacks in these patients and disorders of the electrolyte balance. The histological studies of the muscular biopsy during the attacks detected a vacuolization of muscular fiberes. Histochemical studies of some metabolities of the carbohydrate metabolism did not detect any significant changes. The achieved results point only to an increase of the glyconeogenesis process and aerobie glycolisis.¿

[Thomsen's myotonia (clinico-morphologic study)]. / Miotoniia Tomsena (kliniko-morfologicheskoe izuchenie)

The report deals with the results of a clinico-morphological study of 14 patients with Thomsen's myotonia. The muscles obtained during biopsy were studied by electron microscopy. It was established that in patients with a mild and moderate degree of the disease the muscle fibres did not differ from normal ones. Only in patients with severe forms of the disease was it possible to detect focal changes of the myofebrillar apparatus, a moderate hypertrophy of the sacrotubular system and an enlargement in the size of the mitochondria. These changes as it is assumed, are morphological expression of the myotonic phenomenon and reflect the changed functional relationships in the link Ca-troponin-actomyosine complex.

[Change in the ultrastructure of the muscles in thyrotoxic periodic paralysis]. / Izmenenie ul'trastruktury myshts pri tireotoksicheskom periodi cheskom paraliche

The article presents data on the clinico-morphological study of three patients suffering from thyrotoxicosis with attacks of periodic paralysis. The muscles obtained by biopsy in two patients at the moment of attack and in one patient--in the absence of attack were investigated by the electron microscopy method. The data obtained make it possible to assume that in the thyrotoxic periodic paralysis the action of the thyroid hormones causes not only impairment of the mineral metabolism, but brings about changes in the structure of the membranes of the sarcolemma and T-system, which leads to disturbances of conductance of action potential into the fibre. These changes affect the function of the end cisterns and lead to distorsion of the processes of conjugation of excitation-contraction with resulting development of paresis and paralysis of muscles. Moreover, during the attack there take place secondary disturbances of carbohydrate metabolism, which aggravates the pathological process.