Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to a mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, the ability to move independently decreases as well as respiratory and cardiac functions. At various stages of the disease, different methods of care and treatment of patients with DMD are used. The clinical effect of new methods of DMD target therapy may depend on the stage of development of the disease (ambulatory or non‑ambulatory). To date, there are no unified criteria for assessing the status of a patient in terms ambulatory. In clinical trials and real clinical practice, different approaches are used to assess the patient’s status. However, the conclusion about the functional capabilities is critical for patients with DMD as approaches in management of patients in ambulatory and non‑ambulatory stages differ significantly. This necessitates expert consensus to achieve consistency and avoid any of discrepancies on that issue.

The paper reviews the available published data on the concepts of “ambulatory” and “non‑ambulatory” used in clinical trials, real clinical practice, international standards and recommendations. As a conclusion of this analysis, it is proposed in real clinical practice to interpret “ambulation” in DMD patients as ability to walk without the use of assistive devices and without specifying the distance and time, and “non‑ambulation” as condition in which the patient is forced to constantly use a wheelchair both indoors and outdoors.

Background. Carpal tunnel syndrome is the most common compression mononeuropathy. The choice of the preferred conservative treatment method is still relevant, especially for the patients with the moderate severity of the disease. 

Objective: to perform a comparative study of the effectiveness of local injection therapy and wrist splinting in idiopathic moderate carpal tunnel syndrome; to assess the duration of the clinical effect in the follow‑up period to 6 months. 

Materials and methods. The study included 105 cases of moderate idiopathic carpal tunnel syndrome. Patients were randomized to 2 groups depending on the treatment method: the main group (n = 54) received 1 or 2 ultrasound‑guided injections with glucocorticosteroid (betamethasone 5 mg + 2 mg/1.0 ml) and lidocaine 2 % 1.0 ml into the carpal canal; the control group (n = 51) was assigned wrist splinting at night for 1 month. The primary criterion for therapy effectiveness was evaluation by clinical scales (SSS, FSS, LANSS, Visual Analogue Scale) after 1 month from the treatment initiation. A secondary criterion for the therapy effectiveness was the assessment of changes in electrophysiological and neurosonographic parameters.

Results. The scores for SSS, FSS, LANSS and Visual Analogue Scale were significantly lower at 1 month in the injection therapy group than in the splinting group (p <0.0001). A significant change in the electrophysiological parameters of the median nerve (a decrease the distal motor and sensory latency, an increase in the Mand S‑response amplitude, an increase in sensory conduction velocity on the hand) and a significant decrease in the cross‑sectional area of the median nerve at the level of the pisiform bone was noted only in the local injection therapy group. The average duration of the local injection therapy clinical effect surpassed the splinting one and reached 4 months.

Conclusion. After 1 month from the start of the treatment, the local injection therapy demonstrated a higher clinical efficacy compared to the wrist splinting, the average duration of the effect reached 4 months. This conservative treatment method is preferred for the patients with moderate idiopathic carpal tunnel syndrome.

This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among newborns was 1:24 494, or 4.08 per 100.000. That corresponds to data on other populations of the Russian Federation and the world. We also describe intermediate results of the clinical efficacy of treatment of three spinal muscular atrophy 5q patients. Gene replacement therapy was used in two cases and combined pathogenetic and gene replacement therapy was used in the third case. No clinically significant decrease in the CHOP INTEND score from the baseline level was found in any patient during follow‑up. Clinical improvement was noted both during treatment with nusinersen and after administration of onasemnogene abeparvovec. Described clinical cases demonstrate the importance of early diagnosis and initiation of antisense oligonucleotide and/or gene replacement therapy, which is possible only when spinal muscular atrophy 5q is included in the neonatal screening program.

Background. Multiple epiphysal dysplasia (MED) type 1 (OMIM: 132400) is one of 7 genetic variants of this group of skeletal dysplasias described to date. The disease is caused by mutations in the COMP gene located on chromosome 19p13.1. The presence of muscle hypotonia and ligamentous laxity, as well as a moderate increase in the level of creatinephosphokinase activity, can lead to misdiagnosis of myopathy.

Objective: to analyze the clinical and genetic characteristics of type 1 MED caused by mutations in the COMP gene in a series of Russian patients. Differential diagnosis was focused on the distinctive features of the disorder and hereditary myopathies.

Materials and methods. We observed 8 patients from 7 families aged 7 to 15 years with MED type 1 caused by heterozygous mutations in the COMP gene. To confirm the diagnosis, the following methods were used: genealogical analysis, clinical examination, neurological examination with psycho-emotional testing, radiography and targeted sequencing of a panel consisting of 166 genes responsible for the development of inherited skeletal pathology.

Results. Case history, clinical, radiological and genetic characteristics of 8 patients with MED type 1 caused by mutations in the COMP gene were analyzed. The first clinical manifestations of the disease were recorded from the age of 2–3 years and were characterized by gait disturbances, muscle weakness, difficulties with climbing stairs, frequent falls when walking, the inability to get up from the floor and from a squatting position and hypermobility of the joints. Electroneuromyographic study did not reveal the signs of miopathy. In two patients, a moderate increase in the creatinekinase level of up to 250–360 u / l was found. All patients were surveyed by neurologists for several years with a clinical diagnosis of congenital myopathy. At the age of 5–6 years patients COMPlained knee and ankle pain, which was assumed as rheumatic arthropathy. X-ray examination revealed typical signs of deficient ossification of the epiphyses. The next-generation sequencing analysis revealed seven single nucleotide variants in the COMP gene that lead to MED type 1. Three of the found variants here identified for the first time. As previously described, the majority of nucleotide variants (six out of seven) were localized in the 8–14 exons of the COMP gene and led to amino acid substitutions in calmodulin-like protein domain repeats, and only one substitution was localized in the C-terminal region of the protein molecule.

Conclusion. In most patients with MED caused by mutations in the COMP gene, the first symptoms of the disease are gait disturbance, muscle weakness, and Gowers» maneuvers. The presence of these symptoms, along with a moderate increase in the level of creatinephosphokinase activity, often precedes the onset of clinical manifestations of skeletal dysplasia, leading to a misdiagnosis with myopathies. Accession of expressive arthralgias to these symptoms was mistakenly identified as reactive arthritis. X-ray examination of patients’ long bones helps to suspect the presence of MED. This X-ray imaging shows specific signs of epiphyses damage. A molecular-genetic analysis needs to be done to diagnose the genetic variant, caused by mutations in gene COMP.

Background. Dystrophic myotonia type 1 (DM1) is the most common muscular dystrophy in patients of any age. Myotonia “delayed relaxation of muscle” is the leading symptom in DM1 and can occur at any time after onset disease. Myotonia symptoms and electrical myotonia registration are delayed after onset in patients with congenital and infantile forms of DM1. This makes it difficult to diagnose and prevent fatal complications in these patients in a timely manner. Objective: presentation of the clinical data and results of needle electromyography in patients with DM1 onset in the first decade of the life; determination of the first symptoms of the disease, to estimate the age of myotonia and electrical myotonia manifestation for the optimization of the timely diagnostics of the disease.
Materials and methods. 13 patients with DM1 aged from 2 months to 34 years were described. 10 patients underwent needle electromyography with analysis of spontaneous activity and needle EMG pattern. The diagnosis was made on the basis of clinical and paraclinical manifestations of the disease and identification of an increase in CTG repeats (>50) in the DMPK gene.
Results. The onset with extramuscular signs of respiratory and/or feeding disturbances, dysarthria, school learning disorders, autism spectrum disturbance and “floppy infant syndrome” was noted as the first symptoms of the disease. Clinical myotonia symptoms and electrical manifestations of myotonia were absent in all patients for a long time after the disease onset. DM1 was confirmed in all mothers, however in 5 cases the onset of the disease was later than the first symptoms in patients with congenital and childhood onset forms of DM1.
Conclusion. The first symptoms of the congenital and infantile forms of DM1 are not specific and occur in a wide range of diseases. Such discriminating signs of DM1 as clinical myotonia, distal muscle atrophy and electrical myotonia appear much later than the onset disease. In the group of patients before and after the formation of phrasal speech, the presented combinations of symptoms allow diagnostics of the congenital and infantile forms of DM1 at the onset of the disease. In its turn, it allows genetic counseling in burdened families and timely prevention of fatal complications.

Background. Numerous publications have noted the piano of unequal‑muscular relations arising in the process of vocalization, and described intra‑laryngeal sensitive (afferent) and motor (efferent) nerve endings. Pari estomp a significant part of the efferent pathways are vegetative nerve fibers that control the ulcer trophic state of the tissue substrate and have a direct effect on the muscles of the larynx, changing the metabolism of muscle cells.

Objective: to analyze the features of vegetative innervation of the larynx in the area of vocal folds on the sectional material.

Materials and methods. In the study of vegetative innervation of the mucous membrane and laryngeal muscles, we used the material obtained in sectional studies of 28 people who died as a result of injuries incompatible with life, opt cardiovascular insufficiency and opt pneumonia at the age of 54–85 years, in whom there were no life‑threatening ENT diseases. Adrenergic nerve fibers were detected by the Bjerklund method modified by V.N. Shvalev and N.I. Zhuchkova, and cholinergic nerve fibers were studied using the Karnovsky–Roots method based on incubation of sections in a solution of a specific substrate.

Results. Adrenergic and cholinergic nerve conductors, as a rule, use common ways of penetration into the larynx under the walker of blood vessels and as part of the laryngeal nerves. Onyx are localized in the mucous membrane and muscles of the larynx and have reduce features. Autonomic nerve structures located in the muscles are observed directly in the middle of the muscle fibers.

Conclusion. The abundance of adrenergic and cholinergic nerve fibers and endings, combining different structural elements of the larynx into a single morphofunctional complex, is the material main influence of vegetative nervous system over the folded mechanism of voice formation and over the processes of voice disorders in various diseases.