Dystroglycanopathy is one of the groups of congenital muscular dystrophies, the occurrence of which is associated with a disorder of α-dystroglycan glycosylation. To date, 18 genes responsible for the development of this condition are known. The 2nd part of this review presents the classification, phenotypic forms, clinical features, pathogenesis and etiology of this type of congenital muscular dystrophies. In addition, the issues of molecular diagnosis of congenital muscular dystrophies are considered and information on modern developments in the treatment of this pathology is provided.

Introduction. Atypical variants of chronic inflammatory demyelinating polyneuropathy are marked by its clinical heterogeneity and variable disease course.

Aim of the study. To describe clinical, anamnestic and neurophysiological features of patients with atypical variants of chronic inflammatory demyelinating polyneuropathy, characterized by benign disease course, minimal motor involvement and not required pathogenic therapy.

Materials and methods. 8 patients (7 men (87 %) and 1 woman (13 %) at the age of 52–77 years) with atypical variants of chronic inflammatory demyelinating polyneuropathy were analyzed: 5 patients (62.5 %) with asymmetric variant – multifocal acquired demyelinating sensorimotor neuropathy and 3 patients (37.5 %) with sensory variant. All patients were observed at the Research Center of Neurology for the period of 2016– 2019. In each patient the proper clinical and laboratory evaluation was performed along with nerve conduction study and nerve ultrasound.

Results. The disease duration at the time of first visit was 1–8 years. By INCAT disability score 3 (37.5 %) patients had 0 points (normal), 3 (37.5 %) patients – 1 point and 1 patient had 2 (25 %) points. Nerve conduction study showed multifocal, asymmetric demyelinating changes in motor nerves. For the whole period of observation all patients were stable, so no one required pathogenic therapy.

Conclusion. Chronic inflammatory demyelinating polyneuropathy is a clinically heterogeneous disorder, required clinical suspicion in all patients over 50 years with features of multiple nerve involvement; nerve conduction study helps to detect typical changes, including subclinical ones. The primary strategy of management typical and atypical disease variants in stable course and minimal symptoms is a case follow-up with precise assessment of advantages and disadvantages of pathogenic therapy.

Introduction. Lumbosacral radiculopathy is а leading cause of long-term disability. Taking into a consideration the duration of treatment radiculopathy, the risk of developing adverse reactions when taking analgesics, non-steroidal anti-inflammatory drugs, the physiotherapeutic method — repetitive peripheral magnetic stimulation may become a promising method of therapy.

Aim of the study. Assessment of the effectiveness of the complex treatment for patients with lumbosacral radiculopathy using the course of the repetitive peripheral magnetic stimulation.

Materials and methods. Forty patients with lumbosacral radiculopathy were enrolled in the open non-randomized study, were divided into 2 parallel groups. The patients of the 1st group received a course of traditional treatment and a course of the repetitive peripheral magnetic stimulation. The patients of the 2nd group were treated with the traditional treatment without the course of the stimulation. A magnetic stimulator MagPro (Magventure, Denmark) was used for repetitive peripheral magnetic stimulation.

Results. A significant difference (p <0.001) was registered regarding the reduction of pain syndrome and the improvement of the functional status after treatment in both groups. 14 (70 %) patients of the first group achieved a pain visual analogue scale relief by 50 % after 10 repetitive peripheral magnetic stimulation sessions, while 6 (30 %) patients did this after 15 repetitive peripheral magnetic stimulation sessions. We did not observed a statistically significant differences (p >0.05) in pain syndrome, functional status, anxiety level at the end of follow-up between the groups.

Conclusion. We did not receive the benefits of the repetitive peripheral magnetic stimulation course in comparison with a traditional treatment of a lumbosacral radiculopathy. Further placebo-controlled studies to study the effect of repetitive peripheral magnetic stimulation on pain and anxiety in patients with back pain and radiculopathy are required.

Introduction. Charcot–Marie–Tooth disease type 4D is a hereditary demyelinating neuropathy, that occurs with the high frequency in patients of Roma origin. It is characterized by early onset at the age of 2–10 years and hearing impairment, manifested by the 3rd decade of life.

Aim of the study. To describe the clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D in Russian patients of Roma origin.

Materials and methods. For 14 probands from unrelated families of Roma origin with a clinical diagnosis of Charcot–Marie–Tooth disease, genetic tests for the pathogenic variants c. 442C>T in the NDRG1 gene and c. 3325C>T in the SH3TC2 gene was carried out. For 8 patients with Charcot–Marie–Tooth disease type 4D, detailed clinical and electrophysiological examination was performed.

Results. In 11 families of Roma origin, the c. 442C>T pathogenic variant in the NDRG1 gene in a homozygous state was detected, which accounted for 79 % all observed Roma patients with Charcot–Marie–Tooth disease. There are 12 of the 14 tested families live in the European part of Russia, 7 of them are from nearby regions. The average age of onset was 3.3 years. The first symptom in 7 of 8 patients was gait disturbances. At the time of examination (age range 6–19 years), all patients showed marked hypotrophy and weakness of the feet, lower leg, hands muscles, feet deformities, reduction or loss of tendon reflexes.

Discussion. Due to the detection of only one pathogenic variant in most Russian patients of Roma origin with Charcot–Marie–Tooth disease, the knowledge of the ethnicity of a proband with early myelinopathy can significantly simplify the confirmation of the diagnosis on the molecular level.

Introduction. Nerve ultrasound continues to progress due to improved technical equipment and knowledge, but so far not enough research has been done to determine the normative values of the cross-sectional area in children, and the obtained results differ between laboratories and researchers.

Aim of the study. To determine the normative values of peripheral nerves» cross-sectional area in children 5–18 years old.

Materials and methods. High resolution nerve ultrasound of brachial plexus, median, ulnar, radial, femoral, sciatic, tibial and peroneal nerves was performed in 30 children in real time. Nerve trunks were visualized throughout the limb from both sides. The cross-sectional area of the nerves was measured by a manual tracing method with the rounding of the hypoechogenic contours of the nerve trunk. Nerves’ crosssectional area was measured at distal and proximal sites. The obtained data were statistically processed using Excel and Statistica 10.

Results. No bilateral cross-sectional area’s differences were found in children. Boys had significantly thicker nerves compared to girls, older age group (13–17 years old) compared to younger ones. There was a significant correlation between cross-sectional area of the median nerve at the level of the wrist, sciatic nerve and children’ height and weight.

Conclusions. The normal values of cross-sectional area in children can be used in the practical work of a neurologists, neurophysiologists and ultrasound technicians.

Schwartz–Jampel syndrome (chondrodystrophic myotonia) is a monogenic genetic disorder, demonstrating unique coincidence of the features of skeletal dysplasia and neuromuscular disease. We present four clinical cases of Schwartz–Jampel syndrome. Principles of diagnostic and results of surgical treatment of the lower limbs deformities are discussed. Importance of this study comprises unique description of rare cases. Surgical treatment for orthopaedic conditions is important and can lead to functional improvement, prevent progression of deformities and enhance daily activity.