Background. Fatigue (athenia) is widely spread among patients with neurological disorders. It substantially reduces patients’ quality of life. Its clinical features and mechanisms of the development have not been studies sufficiently.

Aim. To analyze clinical features of fatigue in patients with amyotrophic lateral sclerosis.

Materials and methods. Forty two patients with amyotrophic lateral sclerosis were recruited to the study. Fatigue was assessed using the Multidimensional Fatigue Inventory (MFI-20). The independent predictors of the severity of fatigue were calculated using linear regression analysis.

Results. Fatigue was detected in 27 (64 %) patients. The most common type of fatigue was reduced activity, the least common – general fatigue. Severity of depression and motor neurological deficit were independent predictors of fatigue according to general MFI-20 score.

Conclusion. Fatigue in amyotrophic lateral sclerosis is wide spread phenomenon. Its clinical features include both physical and mental components.

Background. Prolaptology is an area dedicated to the study and correction of pelvic organ prolapse, which remains an unsolved task of gynecology at the current stage of its development. Trampoline reflex – contraction of the pelvic floor muscles in response to an increase in intra-abdominal pressure in the “hammock mode/trampoline”. It is shown that the entire thickness of the pelvic floor muscles implements the trampoline reflex as a form of “fast” phasic reflex, and the background tone of the pelvic floor muscles is determined by “slow” tonic reflexes.

Aim. To study the structural and functional organization of the trampoline reflex, to propose an experimental neurophysiological model of its objectification.

Materials and methods. Data from open literature sources were used to build a theoretical neurophysiological model. An experimental neurophysiological model was built on the basis of a study of three healthy female volunteers over the age of 18 (average age is 30.00 ± 2.66 years). Registration of the trampoline reflex was carried out using an individual vaginal electrode (2nd channel of abduction) with unilateral stimulation of the diaphragmatic nerve and withdrawal of motor responses from the diaphragm (1st channel of abduction).

Results. It is shown that the amplitude characteristics of the motor responses of the diaphragm of adult female subjects are significantly lower than those described earlier, and the motor response of the vaginal muscles during stimulation of the diaphragmatic nerve has a low amplitude, the principal possibility of its registration is associated with traumatic events from the bottom. The inversion of the motor response of the vaginal muscles is associated with the technical features of its registration.

Conclusion. A neurophysiological model and a method for registering the reflex activity of the pelvic floor muscles are presented, which allows expanding the possibilities of diagnosing pelvic organ dysfunction from the position of impaired innervation of motor innervation and «imperfections» of the pelvic floor as an efferent link of the trampoline reflex.

Background. The main cause of morbidity and mortality in myasthenia gravis (MG) patients is respiratory failure that is based on subclinical respiratory disorders. Rehabilitation opportunities for such patients are limited by the frequent presence of a subjective feeling of fatigue that is important to distinguish from the main symptom of the disease – pathological muscle fatigability. This is determined by the need to achieve a balance between the obvious benefits of physical activity on the one hand and the rapid increase in fatigue and fatigability on the other and the peculiarities of the selection of physical exercises.

Aim. To analyze the effectiveness of rehabilitation of MG patients with subclinical respiratory disturbances, to determine the level of fatigue in MG, to assess the effect of physical activity on fatigue.

Materials and methods. The fatigue was studied in 53 MG patients using visual analog scale, “Well-being, activity, mood” questionnaire and fatigue assessment scale. Those who had no therapy enhancement within 6 months before the start as well as during the entire rehabilitation period were included in the study to determine the net effect of rehabilitation. The external respiration function was studied before and after the rehabilitation course. Before conducting the study a sample size planning method was used for independed and depended groups. Based on the results of the calculations a group of 22 patients with generalized MG without signs of respiratory disorders was formed to study the possibilities of rehabilitation.

Results. According to the questionnaire a significant increase in the level (U, p = 0.002) and frequency of fatigue (χ2, p = 0.002), frequent poor health (χ2, p = 0.041 according to visual analog scale and χ2, p <0.0001 according to “Well-being, activity, mood” questionnaire), increased physical fatigue (U, p = 0.005) were showed. The negative effect of fatigue on well-being (rs = –0.78; p <0.05) and activity (rs = –0.73; p <0.05) was established. As a result of rehabilitation of MG patients with subclinical respiratory disorders a significant increase of vital capacity (W, p = 0.026) and inspiratory reserve volume (W, p = 0.044) were achieved.

Good tolerance and absence of negative effects of physical exercise on general well-being (W, p = 0.495) on visual analog scale have been established. There was no deterioration on “Well-being, activity, mood” questionnaire: well-being (W, p = 0.467), activity (W, p = 0.396) and mood (W, p = 0.709). There was no increase in physical fatigue (W, p = 0.368) on fatigue assessment scale.

Conclusion. Taking into account the pronounced effect of fatigue on the MG patient’s condition physical rehabilitation should be selected individually, preventing an increase in fatigue, muscle fatigability and weakness. Soft, mild or moderate intensity exercises are well tolerated and have no side effects.

Background. Spinal muscular atrophy 5q (SMA) is a severe genetic neuromuscular disorder, which is primarily manifested through musclar weakness. Previously, cognitive development in the natural course of SMA was considered normal. The introduction of etiopathogenetic therapy has altered the disease trajectory, led to new phenotypes, improved survival rates, and outlined the importance of studying the development of emotional, cognitive, and communicative domains, and adaptive behavior in SMA patients.

Aim. To conduct a comprehensive assessment of emotional, cognitive, and adaptive domains, as well as speech development, in patients with genetically confirmed SMA, including cases, which were identified through newborn screening programs and were asymptomatic at the initiation of etiopathogenetic therapy, and to identify factors influencing neuropsychic development in SMA patients.

Materials and methods. The study included 87 SMA patients receiving etiopathogenetic therapy, aged 0–12 years (median age at testing – 57.0 [37.0; 103.0] months). The Developmental Profile-3 (DP-3) instrument was used to assess neuropsychic development. Statistical analysis was performed using SPSS Statistics v.26.0 (IBM, USA).

Results. Children who received therapy at the presymptomatic stage (6.9 % of the cohort) showed no deficits in any assessed developmental domains. These results significantly differed from those of SMA types 1, 2, and 3 in motor skills (padj <0.001) and adaptive behavior (padj ≤0.026). Patients with SMA types 1, 2, and 3 exhibited severe motor impairments (reduced motor skills in 93.0 %, 89.7 %, and 88.9 % of children, respectively) and adaptive deficits (impairments in ≥55 % of each group). SMA type 1 patients additionally demonstrated delays in social emotional (39.5 %), cognitive (30.2 %), and communicative (39.5 %) domains. Children with lower functional status (“lying”) had more pronounced delays in adaptive, social emotional, and cognitive domains (p ≤0.048). In SMA type 1, fewer SMN2 gene copies and earlier disease onset correlated with more severe deficits in emotional, cognitive, and adaptive domains, as well as in speech development (SMN2 copies: p ≤0.034; age of onset: p ≤0.012). SMA type 1 patients with dysphagia showed lower scores across all subscales except motor skills (p ≤0.015). Chronic respiratory insufficiency was associated with reduced scores in all five subscales: in SMA type 1, motor skills, adaptive, social emotional, and cognitive domains were affected (p ≤0.045); in SMA type 2, adaptive, social emotional, and cognitive domains were affected (p ≤0.018). Delayed therapy initiation correlated with lower motor and adaptive scores in SMA types 1 (p ≤0.012), 2 (p ≤0.002), and 3 (p ≤0.048), and with worse social emotional and cognitive outcomes in SMA type 2 (p = 0.001).

Conclusion. SMA patients exhibit not only motor impairments but also adaptive and socialization deficits, as well as delays in communicative and cognitive development. A standardized approach to identifying these impairments should be developed, and developing tailored rehabilitation methods is important as well. Initiating etiopathogenetic therapy at the presymptomatic stage may prevent neuropsychiatric manifestations of SMA.

Background. Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by a variant in the DMD gene, leading to severe disability and death at a young age. Today, in some variants in the DMD gene, etiopathogenetic therapy is possible to increase the patient’s life expectancy and improve his quality of life.

Aim. To evaluate the dynamics of assess the dynamics of the ability to walk independently in patients with DMD caused by a nonsense variant in the DMD gene on the background of therapy with the drug ataluren.

Materials and methods. The study included 9 patients with DMD caused by nonsense variants in the DMD gene. Of them, 3 patients were brothers and lost the ability to walk, 6 patients at the ambulatory stage of the disease received therapy with the drug ataluren according to the standard scheme. The six-minute walk test was chosen as the main parameter to assess the treatment efficacy in comparison with the baseline values before treatment.

Results. According to the data of six-minute walk test during the observation period 5 patients taking ataluren during 18–36 months retained the ability to move independently. One patient who initially walked 12 m lost ambulation 6 months after starting ataluren therapy. Compared with 3 non-ambulatory brothers with DMD due to the DMD nonsense gene variant who did not receive ataluren, 3 younger brothers on ataluren therapy retained ambulation at an age when the older brothers had already become non-ambulatory.

Conclusion. Pathogenetic therapy with the drug ataluren slows down the clinical course of DMD caused by a nonsense variant in the DMD gene with preservation of ambulatory capacity and is characterized by good tolerability.

Immune checkpoint inhibitors have been used successfully over the last several years for treatment of many types of advanced cancer. Those agents cause uncontrolled activation of the immune system frequently resulting in immune-related adverse effects and exacerbation of pre-existing autoimmune diseases. In particular, immune checkpoint inhibitors can cause myasthenia which is usually characterized by an acute onset, rapid progression, and frequent development of myasthenic crisis requiring mechanical ventilation. Coexistence of myasthenia with myocarditis and myositis was shown to be an unfavorable prognostic factor. Steroids, intravenous immunoglobulins, and plasmapheresis are used for treatment of immune checkpoint inhibitor- associated myasthenia.

The co-occurrence of two genetic disorders in a single patient, so called double trouble phenomenon, is a rare clinical scenario that significantly complicates the diagnostic process. This is particularly challenging when both disorders affect the nervous system, leading to overlapping phenotypes. Congenital disorders of glycosylation, including the rare congenital 1i type caused by variants in the ALG2 gene, are characterized by psychomotor delay, microcephaly, seizures, hepatomegaly, and ophthalmological abnormalities. Joubert syndrome, associated with variants in the CPLANE1 gene, presents with brain malformations, severe psychomotor delay, oculomotor apraxia, and respiratory disturbances. In this study, we describe a patient with a rare combination of congenital disorders of glycosylation 1i type and Joubert syndrome type 17, caused by previously unreported variants in the ALG2 and CPLANE1 genes. This case highlights the diagnostic challenges and the need for a comprehensive approach in managing patients with multiple genetic disorders.