[The pathogenesis of Duchenne muscular dystrophy]. / Nekotorye osobennosti patogeneza miodistrofii Diushenna.

A new concept of pathogenesis Duchenne Muscular Dystrophy (DMD) based on authors experience and discussion of results of other studies. Author estimate DMD as a cerebro-muscular pathology depend on absent dystrophin (D) in skeletal muscles, heart, brain. Author suppose that all family D work as one functional system, which play the important role in organization of walking. Destroy of this system is cause of the disease.

[Characteristics of cardiomyopathy in recessive X-linked myodystrophy with a rapid and slow course].

AIM: To specify cardiomyopathy development in two types of myodystrophy--with complete and partial absence of dystrophin--for detection of the role of genetic and environmental impacts. MATERIAL AND METHODS: Clinical, genetic and electrophysiological examinations, test for creatinphosphokinase (CPK) were made in 113 patients with recessive X-linked Duchenne myodystrophy (DMD) aged 7 to 20 years and with Bekker's myodystrophy (BMD) aged 18 to 60 years. The control group consisted of 112 males matched by age and antropometric parameters. RESULTS: The patients were diagnosed to have left ventricular (LV) diastolic dysfunction of pseudonormal or restrictive type (in BMD patients dystrophy was less severe) without changes in LV geometry. There was dissociation between the lesion of the skeletal muscles and myocardial dystrophy showing a special role of dystrophin in the myocardium. Echocardiographic examination revealed early signs of heart trouble. CONCLUSION: Development of cardiomyopathy is characterized by development of diastolic dysfunction, then addition of excentric hypertrophy, later systolic dysfunction arises and growing dilation. Partial absence of dystrophin in BMD patients explains less severe structural and functional cardiac affection. The main marker of the course of myodystrophy is CPK. This parameter helps to evaluate the progress of the pathological processes in the skeletal muscles and myocardium. Electrocardiographic examination of these patients must be supplemented with echocardiography.

Dopamine deficiency syndrome in children with a special reaction to treatment with levodopa preparations.

The authors describe the dopamine deficiency syndrome in children with the disease beginning during their first year and unusual dystonia symptoms resulting in total immobilization and speech loss. All symptoms of the disease can be eliminated by low doses of nakom but reappear on withdrawal of the drug. Tyrosine hydroxylase studies made on these patients at various stages of the disease showed a different pattern of enzyme activity from that observed in children with similar pathology failing to improve dramatically under nakom treatment.

[Human embryonal muscles in Duchenne muscular dystrophy]. / Issledovanie émbrional'nykh myshts cheloveka pri miopatii Diushenna.

Activity of skeletal muscle creatine kinase (main test in diagnosis of Duchenne myopathy) was studied in 9 embryos of 8-20 weeks old obtained from women which have got sons with this myopathy. It is well known that the enzymatic activity is increased at the beginning of the myodystrophy. This fact was detected in 20 weeks old embryos of male sex, while isoenzyme composition was unaltered. The data obtained suggest that impairments occurred in contractile apparatus of myofibrils as a result of which activity of creatine kinase was altered within the early steps of ontogenesis.

[Dopamine deficiency syndrome in children with specific reaction to the treatment with levodopa preparations]. / Sindrom dofaminovoi nedostatochnosti u detei s osoboi reaktsiei na lechenie preparatami levodopy.

The authors describe the dopamine deficiency syndrome in children with the disease beginning during their first year and peculiar dystonia++ symptoms resulting in a total immobilization and speech loss. All the symptoms of the disease can be removed by low doses of Nakom and reappeared upon the drug withdrawal. Tyrosine hydroxylase studies performed in these patients at various stages of the disease showed an unusual pattern of the enzyme activity differing from that seen in children with similar pathology failing to improve dramatically under the Nakom treatment.

[Effect of Essentiale on the blood lipid indicators in progressive Duchenne muscular dystrophy]. / Vliianie Essentsiale na pokazateli lipidov krovi pri progressi- ruiushchei myshechnoi distrofii Diushenna.

The authors showed a positive effect of the drug essential on both the lipid metabolism and motor function of their patients. The effect was most pronounced at initial stages of the disease.

[The characteristics of cardiac lesions in patients with X-linked myopathy]. / Osobennosti porazheniia serdtsa u bol'nykh s X-stseplennoi miopatiei.

A patient with advanced X-linked myodystrophy and marked cardiovascular changes is described. Current understanding of the problem of heart muscle involvement in the myodystrophic process as well as treatment of such patients are analysed on the basis of data reported in Soviet and foreign literature.

[Neuromuscular diseases in man (features of their course and types of inheritance)]. / Nervno-myshechnye zabolevaniia cheloveka (osobennosti techeniia i tipov nasledovaniia).

A large number of observations of neuromuscular diseases in humans have been analyzed. The clinical course and nature of inheritance of pathological forms differentiated according to the predominant localization of muscle damage have been found to differ within a wide range. The authors have demonstrated the possibility of significant intrafamilial variability of clinical manifestations which should be considered in medicogenetic counselling.

[Clinical role of lipid metabolism indices in the plasma and erythrocytes in progressive muscular dystrophies]. / Klinicheskoe znachenie pokazatelei lipidnogo obmena v plazme krovi i éritrotsitakh pri progressiruiushchikh myshechnykh distrofiiakh.

Patterns of lipid metabolism were studied in blood plasma and erythrocytes of patients with various forms of hereditary myopathies (Duchenn disease, Bekker-Kiner disease, Erba-Roth disease, Landuzy-Dejerin disease, Sharko-Mary neural amyotrophy). These diseases were characterized by a number of common patterns: deficiency of phospholipids, specific alterations in properties of lipoproteins and in content of cholesterol. In the Duchenn disease specific alterations typical for each step of the disease were shown. These alterations might be of prognostic significance for evaluation of the rate of myodystrophy development.

[Mitochondrial monoamine oxidase in progressive Duchenne muscular dystrophy]. / Mitokhondrial'naia monoaminoksidaza pri progressiruiushchei myshechnoi distrofii Diushenna.

In children with progressive Duchenne muscular dystrophy distinct impairment in activity, of mitochondrial monoamine oxidase from skeletal muscles correlated with the step of myodystrophic process. The decrease in activity of monoamine oxidase in mitochondria of skeletal muscles, occurred with simultaneous increase in intensity of amines deamination in a medium surrounding the organelles, might de due to "leakage" of the enzyme as a result of deterioration of mitochondrial membranes permeability developed in the disease.

[Membrane pathology in human myodystrophy]. / O patologii membran pri miodistrofii cheloveka.

The authors studied the lipid composition of erythrocytic membranes and levels of pentane (a lipid peroxidation product) in the expired air in patients with Duchenne's myodystrophy. The changes found are discussed in the light of a hypothesis of the generalized membranous defect.

[Lipid peroxidation in children with Duchenne's hereditary myopathy]. / Perekisnoe okislenie lipidov u detei s nasledstvennoi miopatiei Diushenna.

Eighteen patients aged 4 to 13 years with Duchenne's progressive muscular dystrophy were examined for the content of lipid peroxidation (LPO) products (lowest volatile hydrocarbons) in the exhaled air. The level of LPO products was found to exceed normal 4-fold as compared to the control group including healthy children of the same age. The maximal increase was detected at the early stages of the disease with a rapid progressive degeneration. The role of LPO in the pathogenesis of Duchenne's muscular dystrophy and possible applications of free radical oxidation inhibitors as new effective medicinal tools are discussed.

[Distribution of free amino acid in blood plasma and erythrocytes in Becker-Kiner muscular dystrophy]. / Raspredelenie svobodnykh aminokislot plazmy krovi i éritrotsitov pri myshechnoi distrofii formy Bekkera-Kinera.

Content of free amino acids was altered in blood plasma and erythrocytes of patients with Becker-Kiner progressive muscular dystrophy; these alterations were more distinct in blood plasma as compared with erythrocytes. Spectra of individual free amino acids were distinctly altered both in blood plasma and erythrocytes. Development of the myodystrophia process correlated with alterations in glycogen and branched-chain amino acids content. The data obtained suggest the important functions of erythrocytes in intertissue transport of free amino acids. Similarity between the alterations, observed in progressive muscular dystrophy and in other pathological states accompanied by accelerated metabolism of proteins, suggests that these impairments are among the components in the adaptation reactions to metabolic stresses.

[Adrenergic structures and monoamine oxidase activity in dystrophic skeletal muscles]. / Adrenergicheskie struktury i aktivnost' monoaminoksidazy v distrofichnykh skeletnykh myshtsakh.

Patients with Duchenne's progressive muscular dystrophy show a high catecholamine content in the adrenergic structures and low mitochondrial monoamine oxidase activity in the skeletal muscles. Activation of dopamine deamination in the mitochondria-surrounding medium may be accounted for by the damage te mitochondrial membrane permeability. Patients with Charcot-Marie's neural amyotrophy did not manifest any such alterations.