Carpal tunnel syndrome is the most frequent entrapment neuropathy. We performed a literature review of application of local corticosteroid injections. The main aim of the review is to outline the issues concerning indications for the treatment, efficiency and safety of the procedure, and the effect’s duration. Different techniques and different types of corticosteroids, outcomes of the local injections in comparsion with surgical treatment are discussed.

Bruxism is stereotypical movements of the mandibula accompanied by grinding or clenching of teeth. Bruxism has 2 circadian manifestations: during sleep (nocturnal bruxism) and during wakefulness (diurnal bruxism). Etiology of the disease is unclear but occlusal disharmony, stress management, basal ganglia dysfunction, and genetic factors are being discussed. An association between bruxism and other motor disorders such as Parkinson’s disease, oromandibular dystonia, Huntington’s disease, as well as some drugs, is observed. For bruxism diagnosis, questionnaires, clinical examination, polysomnography, electromyography, and brux checkers are used. The leading treatment method for bruxism and accompanying dysfunction of the temporomandibular joint is local administration of botulinum neuroprotein into the temporal, masseter, and lateral pterygoid muscles.

Objective: to study epidemiological and population indicators of myasthenia in the Krasnodar Territory. Materials and methods. 344 patients with a diagnosis of myasthenia living in the Krasnodar Territory underwent a retrospective analysis. Results. On January 1, 2017 the prevalence of myasthenia was 8.1 cases per 100,000 population, morbidity in 2011–2016 ranged from 0.27–0.71 cases per 100,000 population, and the average was 0.52 cases per 100,000. The average age of manifestation of the disease of registered patients was 46.2 ± 0.97 years. The minimum age of debut of the disease was 11 years, the maximum – 80 years. The ratio of men and women among patients with myasthenia was 1:2.5. The peak of the onset of the disease in women falls on the period of 20–40 years. A bimodal pattern of incidence in women was revealed in the period from 20 to 40 years and from 50 to 70 years. After 60 years 35 % of men fell ill. The generalized form of myasthenia was observed in 82.8 % of patients, eye cases in 16.3 %, oculopharyngeal form in 0.9 %. Of the observed patients, rural residents accounted for 58.7 %, urban residents for 41.3 %. Conclusion. The main epidemiological indicators of myasthenia obtained in the course of the study in the Krasnodar Territory are on average comparable with the Russian ones and meet the global trends. Epidemiological monitoring of myasthenia is more effective on the basis of specialized myasthenic centers.

Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described patients due to the presence of a deletion in the region of the gene or segment of chromosome 12p12.1, in the presence of missense mutation, the intellectual deficit and the dysmorphic features of the structure are not pronounced sharply and there is no anomaly in the development of other organs and systems.

International scales and questionnaires have become widespread in Russian neurology. Validation is a procedure of top priority necessary before applying this kind of diagnostic instrument in Russian-speaking population. In this article, validation of the Boston Carpal Tunnel Questionnaire (BCTQ) intended for patients with this disease is described. Use of validated Russian version would allow to objectively evaluate severity of clinical manifestations of carpal tunnel syndrome and follow patient dynamics. We present the official BCTQ version recommended for use in Russia, as well as data that showed high sensitivity and reliability of this instrument for clinical evaluation of carpal tunnel syndrome.

The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y.o. son, but not in a 42 y.o. daughter. The Congo red staining were negative in nerve and salivar gland biopsies samples. The reassessment of the transthyretin amyloidosis “red flags” showed that the patient fulfilled the criteria of the disease and the absence of amyloid deposition was not the ground to reject the hereditary cause of the condition. The reasons of the misdiagnosis are discussed.

Pompe disease is a hereditary autosomal recessive disease characterized by accumulation of glycogen due to decreased activity of acid α-glucosidase enzyme in lysosomes. The disease can develop at any age. Cases with onset after the 1st year of life are attributed to late-onset Pompe disease (LOPD). LOPD has a very wide age range when clinical manifestations appear which significantly complicates diagnosis in adults. A case of verified Pompe disease in the Republic of Kazakhstan is presented. A chronology of clinical manifestations and symptoms, results of paraclinical examinations helping to suspect LOPD and verify the diagnosis by decreased activity of acid α-glucosidase in dry blood spot are described.