Congenital muscular dystrophy is an extremely heterogeneous group of hereditary neuromuscular diseases that are clinically characterized by muscular hypotonia, progressive muscle weakness, and dystrophic changes in the muscles. Overlapping clinical symptoms and many genes that have to be analyzed to determine the specific form of the disease in the patient make diagnosis difficult. The molecular genetic stage of diagnosis includes many different methods depending on the clinical hypothesis and their application has not lost its relevance even in the era of massive parallel sequencing. In addition to DNA sequence analysis, the analysis of muscle protein expression can also play a significant role in the diagnosis of congenital muscular dystrophy. In the review, we will consider the most important etiological, pathophysiological, clinical and laboratory data of the main forms of congenital muscular dystrophy known today.

The incidence of plexus brachial birth injuries consists 0.12 % of births (0.04–0.20 %). Although the possibility of complete recovery is relatively high, 10–30 % patients have secondary deformity and limitation of upper limb function due to muscle imbalance and co-contraction around the shoulder and elbow cause abnormal motor performance, osseous deformities and joint contracture. Botulinum toxin type A injections into targeted muscles in combination with occupation therapy, physiotherapy or operative treatment reduce the abnormal cocontraction of the antagonist muscles and help to restore muscles balance and prevent secondary deformities. The article discuses indications for botulinum injection therapy, target muscles, doses of botulinum toxin A, optimal patient’s age and results of treatment.

In a COVID-19 pandemic, a neurologist needs to be able to assess the risks of virus infection in patients with individual neurological diseases. The review presents categories of risk groups from the Association of British Neurologists for neuromuscular diseases, multiple sclerosis and other autoimmune diseases of the central nervous system, stroke, epilepsy and Parkinson’s disease. The risk of infection and the management of patients with neuromuscular diseases are analyzed in detail. The use of multiple sclerosis disease modifying drugs, the treatment of stroke patients are discussed. The data from the international guidelines for the management of patients with epilepsy and Parkinson’s disease are presented.

Introduction. Difficulties in determining the compression of the neurovascular bundle with the thoracic outlet syndrome raises the question of finding an accessible and reproducible method for the neuroimaging of the brachial plexus and surrounding tissues.

Purpose of the study – to develop an ultrasound diagnostic algorithm using a stress test to determine the level and cause of brachial plexus compression in comparison with the results of a clinical assessment.

Materials and methods. 111 patients with verified compression of the brachial plexus at the level of the interstitial (65.7 %) and bone-clavicular space (21.6 %), as well as the tendon of the pectoralis minor muscle (12.6 %) were examined. The study protocol including the Adson ultrasound stress test, the assessment of the lower trunk in the interstitial space, and the test with ultrasound evaluation of the axillary artery at the level of the tendon of the pectoralis minor muscle with passive abduction of the arm back and up was used.

Conclusion. An ultrasound study of the brachial plexus demonstrated informativeness in assessing the level and possible cause of compression, which opens up the possibility of using the method in routine neurological practice.

Introduction. Myasthenia gravis is one of the most common autoimmune neuromuscular diseases, the peak incidence is in the age of 20–40 years. However, studies show that throughout the world in recent decades there has been an increase in the prevalence and incidence of myasthenia gravis among older people.

Purpose of the study – to evaluate the clinical manifestations and diagnostic features of myasthenia gravis in patients with an onset of diseases in the elderly.

Materials and methods. The retrospective, non-interventional study included 315 patients over 18 years old with a reliable (3 out of 4 criteria) and an undoubted (4 out of 4 criteria) diagnosis of myasthenia gravis, the duration of the disease for up to 5 years, undergoing inpatient treatment from 2001 to 2017 years. The severity of the clinical manifestations of myasthenia gravis was assessed using the Myasthenia Gravis Foundation of America scale. We were taken into account the information about the first symptoms, duration of the period from the onset of the disease to the verification of the diagnosis, results of the examinations, the presence of concomitant diseases and treatment methods.

Results. The most common symptom of myasthenia gravis in the group of patients with debut disease aged 60 years and older was ptosis (p <0.001). The crises and pathology of the thymus were less common in elderly patients (p <0.0001). The concentration of antibodies to acetylcholine receptors was the same (p = 0.05) among all patients. The level of antibodies to titin was increased in patients with lateonset (p = 0.0014). The presence of bronchopulmonary pathology made worse the course of myasthenia gravis in elderly people (p = 0.01), while cardiovascular and cerebrovascular diseases, as well as diabetes mellitus, did not occur (p >0.005). At the first examination in the group of elderly patients among the incorrectly diagnoses prevailed: stroke or decompensation of chronic cerebral ischemia (p = 0.0002). With a comparable duration and severity of myasthenia gravis in different age groups, the combination of anticholinesterase drugs, glucocorticosteroids and azathioprine (p = 0.01) at a lower daily dose (100 mg) was more often used for the treatment of elderly patients compared with young and middle-aged groups (150 mg) (p = 0.03).

Conclusion. Diagnosis of myasthenia gravis in elderly patients presents the greatest difficulties, and symptoms of manifestation during initial treatment are often regarded as a manifestation of vascular pathology. Despite the presence of concomitant diseases characteristic of this age group, myasthenia gravis does not differ in the severity of the course. To achieve remission and compensation of symptoms, elderly patients do not need large doses of symptomatic and pathogenetic drugs.

Transcranial magnetic stimulation is a method of focal non-invasive brain stimulation, characterized by high spatial and temporal resolution. To date, diagnostic transcranial magnetic stimulation has been used in clinical practice primarily to assess an involvement of the upper motor neurons and to measure the velocity of the neuronal impulse propagation. However, in the last 10 years, a possible range of transcranial magnetic stimulation diagnostic applications has significantly expanded. Many transcranial magnetic stimulation approaches are coming from scientific laboratories to clinical practice due to an increased availability of transcranial magnetic stimulation equipment, in particular, magnetic resonance imaging navigation for transcranial magnetic stimulation and a combination of the transcranial magnetic stimulation with electroencephalography and also due to an increased awareness of the clinicians. The diagnostic potential of transcranial magnetic stimulation in relation to motor recovery after a stroke can be classified into 4 directions:

1) assessment of the vertical tracts integrity (primarily, the cortico-spinal tract); 2) an assessment of the cortical excitation-inhibition balance;

3) probing of the functional and effective connectivity among brain regions (primarily, cortical convexity and cerebellum);

4) motor mapping to evaluate cortical reorganization.

In this article we will present these 4 directions of the transcranial magnetic stimulation application to study motor system pathophysiology and to predict motor outcome in stroke, including both existing and developing approaches.

Introduction. X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene is one of the most common monogenic variants of intellectual deficiency in women.

Purpose of the study. Description of the clinical and genetic characteristics of Russian female patients with type 102 mental retardation due to newly identified mutations.

Materials and methods. The diagnosis of mental retardation of type 102 was established on the basis of the features of clinical manifestations and the detection of the mutations in the DDX3X gene as a result of exome sequencing and subsequent confirmation of the identified variants of Sanger sequencing.

Results. A description is given of the clinical and genetic characteristics of two female patients with type 102 X-linked mental retardation due newly to identified mutations p.1703C> G and c.113A> G (NM_001193416) in the DDX3X gene in the heterozygous state. New features of the phenotype are described. The mechanism of the appearance of clinical and genetic correlations is suggested, which can be used as a prognostic marker of the development of the disease.

Conclusion. Clinical and genetic characteristics of two patients with mutations in the DDX3X gene that violate the amino acid sequence of different protein regions with different severity of clinical manifestations are described. The results obtained may testify in favor of the existence of a dependence of the severity of the phenotype on the localization and nature of mutations in the gene and determine the relevance of further research aimed at searching for clinical and genetic correlations.

The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes. The main motor manifestations of the spinal and bulbar muscular atrophy are weakness, atrophy and fasciculation of the muscles of the limbs and bulbar group. Traditionally spinal and bulbar muscular atrophy belongs to the group of motor neuron diseases, but in recent years there is increasing evidence of a significant role of primary muscle pathology in the pathogenesis and clinical picture of this disease. This article provides a review of the literature on the pathogenesis, clinical manifestations and diagnosis of the spinal and bulbar muscular atrophy. We present a case report of the spinal and bulbar muscular atrophy with a clinical findings resembling metabolic myopathy.

Early epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a unique disorder in the group of early epileptic encephalopathies. The same recurrent heterozygous variant of the nucleotide sequence was found in all known patients, but the severity of seizures and dysmorphic signs significantly vary between patients. The current study of a recurrent pathogenic variant in PACS2 gene expands the phenotype spectrum of early epileptic encephalopathy-66 and will improve the management of patients with that disorder in Russia in the future.

Diabetic encephalopathy is one of the late complications of diabetes mellitus arising from chronic hyperglycemia and cerebral macro- and microangiopathy. Cognitive impairment developing during diabetic encephalopathy and the associated maladaptation of patients become even more socially significant due to the rapid increase in the number of patients suffering from diabetes mellitus. In this regard, studies of drugs that improve cognitive functions in patients with diabetes mellitus are of the particular importance. Clinical case of a patient with cognitive impairment and diabetes mellitus treated with actovegin describes its effect on glucose utilization, as well as antioxidant, antihypoxant and other mechanisms of action that allow the drug to be used in patients with cognitive impairment CI on the background of diabetes mellitus.