Membrane theory of muscle weakness in hereditary muscular dystrophy was described with accent of predominated Ca²⁺ ions in skeletal muscle due to destruction of the sarcolemma and other membranes of the different organelles of the skeletal muscle. Showed the role of CT, MRI and phosphorus NMR-spectroscopy as well as the noninvasive the analysis cell-free fetus DNA in maternal plasma for prenatal diagnostic of muscular dystrophies. The different a trial attempts of treatment of muscular dystrophy was described.

Psychological treatment methods can be used to reduce the intensity of the pain syndrome, the influence of psychological, social factors, comorbide disorders, and to improve the quality of life in patients with chronic back pain (CPS, i.e. chronical pain syndrome). The methods of assessing the psychological state, the effectiveness of various psychological methods are discussed. It is noted that the effectiveness of cognitive-behavioral therapy, mindfulness (mindfulness therapy), relaxation method and biofeedback is confirmed by the results of randomized controlled studies for CPS. Psychological methods of treatment for pain should be widely used in the management of patients with CPS.

Bell palsy (BP) is the most common neuropathy and accounts for 11.5–53.3 cases per 100,000 people a year. Diagnosis and early identification of the cause of the disease are crucial for successful treatment. The article provides a literature review on the main hypotheses of the main BP causes: anatomical factors, viral infection and immunological factor.

Introduction. Ataxia with impaired DNA repair is a group of inherited diseases with a wide range of neurological and extraneural manifestations. There are some difficulties in the differential diagnosis of this group of ataxias due to significant clinical polymorphism. Objective. To analyze the clinical presentation, laboratory and instrumental examinations data of a series of genetically confirmed cases of ataxia with impaired DNA repair in adult patients. Material and methods. 55 patients with ataxia of degenerative origin were examined. Clinical evaluation, nerve velocity study, brain MRI, alpha-fetoprotein, immunoglobulins, cholesterol and albumin, creatine phosphokinase activity were performed. Massive parallel sequencing (MPS) was used for genotyping, including the original multigene panel. Results. 8 (14.5%) patients with various forms of ataxia with impaired DNA repair were verified: 5 patients with ataxia-telangiectasia, 3 — with ataxia with oculomotor apraxia types 1 and 2. The clinical features of this forms are characterized, the prevalence of atypical forms of ataxia-telangiectasia in a sample of Russian adult patients is revealed. Phenotypes of ataxia with oculomotor apraxia of the 1 and 2 types corresponded to the classical presentation. Several identified mutations in the ATM and SETX genes are described for the first time. Conclusion. Ataxia with impaired DNA repair is a common group of ataxias in adult Russian patients. They are represented by ataxia-telangiectasia, ataxia with oculomotor apraxia types 1 and 2, often due to new mutations. MPS is the method of choice for genotyping of these forms of ataxia.

A rare clinical observation of a 24-year-old patient with clinical and radiological manifestations of Fibrodysplasia Ossificans Progressiva, combined with rupture of saccular cerebral aneurysm and hyperparathyroidism, is presented. A characteristic feature of this case was a combined pathology of cerebral vessels with Fibrodysplasia Ossificans Progressiva, the first manifestations of which appeared after intracranial haemorrhage with the development of severe motor neurological deficiency. It was accompanied by articulate and severe spastic syndromes, tough muscle and joint contractures, and the signs of Vitamin D deficiency and hyperparathyroidism were found later.

An observation of a 52-year-old patient with tunnel neuropathy (TN) of the median nerve with a positive effect achieved from the use of the anticholinesterase preparation ipidacrinum, is presented. In the observation, a decrease in the severity of neuropathic pain syndrome, an improvement in neurophysiological parameters and emotional state are noted after 4 weeks of treatment. Possible mechanisms of the effects of ipidacrinum application in TN are discussed.

The aim of the study was to evaluate the effect of infusion therapy on postoperative fat globulemia and cognitive dysfunction in patients after hip replacement. Material and methods. In group I, patients received perioperative therapy with 0.9% NaCl solution, and in group II, during the operation — Sterofundin iso and a modified gelatin preparation Gelofuzin, and after the operation — Remaxol. Results. In group II, the number of embolus globules 2 hours after surgery was lower by 51.4%, followed by a faster decrease compared to group I. 3 days after the operation, the MMSE score in group II was higher than in the domains responsible for memory and speech. On day 15, the number of patients without cognitive dysfunction was almost 2 times higher. On day 30, there were no patients with severe cognitive impairment (20–23 points), in group II they were 11.3%. Discussion. The emulsifying effect of the drugs led to a decrease in embolic cerebral damage by fat globules that exceed the size of the shaped blood elements. This may be due to sorption of free fatty acids by modified gelatin and recovery of their utilization. Conclusions. А correlation was found between the appearance of large fat globules in the bloodstream and the development of cognitive dysfunction. Application Gelofuzin, Sterofundin iso and Remaxol reduces the severity of fat globules and cognitive dysfunction.