Vol 16, No 2 (2026)

Background. Although a significant number of studies have focused on the rehabilitation of children patients with cerebral palsy (CP), the use of restorative treatment in the adult population with this pathology remains understudied. High-technology robot-assisted rehabilitation using exoskeleton systems for gait restoration has proven effective in various neurological disorders, including the rehabilitation of children with CP. However, questions concerning the application of these methods in adult patients require further clarification.

Aim. To investigate the effect of robot-assisted gait training in an exoskeleton in an outpatient setting on mobility, gait speed, and gait biomechanics in adult patients with CP (students of an inclusive university), and to determine the feasibility and effectiveness (i.e., the appropriateness) of outpatient motor rehabilitation using such training for this patient population.

Materials and methods. The study included 11 patients with spastic CP (spastic diplegia), classified as Gross Motor Function Classification System levels II–III. All patients underwent 10 training sessions on the Remotion robotic exoskeleton system (JSC "Volzhsky Electromechanical Plant", Russian Federation) once a day, 5 days a week. Clinical assessment included the timed up and go test and the 10-meter walk test. To objectify the clinical assessment data, biomechanical analysis of cyclic walking was performed using the Biomekhanika Nevrokor system (LLC Nevrokor, Russian Federation).

Results. The study demonstrated a clinically significant improvement in mobility as assessed by the timed up and go test (p < 0.05) and in fast walking speed measured by the 10-meter walk test (p < 0.05). Based on the gait biomechanics analysis, the patients were divided into two groups: a symmetric gait group (n = 5) and an asymmetric gait group (n = 5). In the asymmetric gait group, a statistically significant improvement in step phase symmetry was observed after the rehabilitation course using the Remotion exoskeleton system. These changes occurred due to a reduction in compensatory movements at the hip joint and normalization of the phase characteristics of the flexion/extension angles of the lower limb joints.

Conclusion. The present study confirmed that outpatient motor rehabilitation using robot-assisted therapy with an exoskeleton system is feasible, appropriate, and effective in adult patients with a previously established diagnosis of CP who are continuing their higher education.

Background. Congenital myasthenic syndrome (CMS) type 11, caused by pathogenic biallelic variants in the RAPSN gene, is one of the most common forms of CMS in patients of European origin. The disease is characterized by significant clinical heterogeneity, which, combined with the variability of electrophysiological findings, leads to diagnostic challenges. Accurate diagnosis determines the management strategy, enabling symptomatic treatment and improvement of functional outcomes.

Aim. To characterize the phenotypic spectrum of CMS type 11 and evaluate genotype–phenotype features based on clinical and instrumental examination of a cohort of patients with biallelic variants in the RAPSN gene.

Materials and methods. The study included 6 patients (4 female) from 5 families with a verified diagnosis of CMS type 11. All patients underwent molecular genetic testing: whole exome sequencing in all cases; in one case, whole genome sequencing using a targeted gene panel for myopathies and myasthenic syndromes was additionally performed, followed by Sanger sequencing validation of identified variants. Variant pathogenicity was assessed according to ACMG/APM (2015) criteria. All patients underwent clinical and genealogical analysis and laboratory testing (creatine phosphokinase, alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, myoglobin). Electrodiagnostic evaluation in 5 patients included neuromuscular transmission testing at 3 Hz repetitive nerve stimulation and needle electromyography of skeletal muscles; in two cases the protocol was extended – one patient underwent stimulation at 10 Hz and another at 50 Hz. Muscle magnetic resonance imaging was performed in 3 patients.

Results. Molecular genetic analysis identified the recurrent variant in RAPSN (NM_005055.5): c.264C>A, p.(Asn88Lys) in all patients: in homozygous state in 4 patients, and in compound heterozygous state in 2 patients – in combination with c.61C>T, p.(Gln21Ter) and c.149_153delins24, p.(Val50GlufrTer114). In patients with the homozygous c.264C>A variant, the disease manifested in childhood or adolescence and followed a relatively mild course, presenting with blepharoptosis, oculomotor disturbances, and predominantly limb-girdle distribution of pathological muscle fatigability and weakness, without bulbar or respiratory involvement. In patients with compound heterozygous variants, the disease manifested in the neonatal period with respiratory failure requiring mechanical ventilation, diffuse muscular hypotonia, and bulbar dysfunction, and was accompanied by delayed motor development, recurrent episodes of respiratory failure, and early orthopedic complications. Repetitive nerve stimulation at 3 Hz revealed a decremental response exceeding 30 % in 1 of 5 examined patients; preconditioning with physical exercise allowed verification of a decrement of 10–16 % in 2 additional patients. Needle electromyography in all 5 patients demonstrated a myopathic pattern of motor unit potential remodeling. Muscle magnetic resonance imaging in 3 patients revealed minimal fatty infiltration predominantly in the posterior muscle groups of the thighs and legs, combined with diffuse edematous changes in the posterior leg muscles. All patients with the homozygous recurrent variant and one patient with compound heterozygous variants received pyridostigmine bromide therapy with a positive clinical response.

Conclusion. CMS type 11 is characterized by a wide phenotypic spectrum – from a mild limb-girdle phenotype with extraocular involvement and childhood onset to severe forms with neonatal manifestation and respiratory failure. Disease severity is determined by the zygosity of the c.264C>A variant: in homozygous state it is associated with a mild late-onset phenotype, whereas in compound heterozygous combination with another pathogenic allele it is associated with neonatal manifestation and severe course. A myopathic pattern of motor unit potential remodeling on needle electromyography, combined with absent decrement on 3 Hz repetitive stimulation and minimal muscle magnetic resonance imaging changes, should not exclude CMS from the differential diagnosis with congenital myopathies. Timely molecular genetic verification of CMS determines the feasibility of symptomatic treatment and is of critical importance for prognosis and patient management.

Optimizing the diagnosis of glomus tumors necessitates a clear distinction between two principal nosological entities. The true glomus tumor (glоmangioma) is pathognomonically associated with intense paroxysmal pain. In contrast, paraganglioma (chemodectoma) most frequently presents with compression of adjacent structures, accompanied by pulsatile tinnitus. All paragangliomas should be regarded as potentially malignant, underscoring the need for long-term follow-up. The diagnostic algorithm must be comprehensive and should sequentially include detailed clinical assessment, mandatory contrast-enhanced magnetic resonance imaging, and in cases of suspected paraganglioma, biochemical screening and molecular genetic testing. Overcoming diagnostic challenges and ensuring early recognition hinge crucially on raising neurologists’ awareness of the clinical polymorphism of these entities, actively incorporating them into the differential diagnosis, and the timely application of advanced instrumental investigations to facilitate appropriate treatment planning.

For many decades, E. Aserinsky and N. Kleitman were considered to be the discoverers of the REM phase of sleep (the “rapid eye movements” sleep phase), who published the results of their research in 1953. However, 70 years later, this fact was questioned, as it was discovered an article published in 1926, in which Russian scientists M.P. Denisova and N.L. Figurin for the first time in the world, not only very detailed descriptions of observations were presented, but also the results of recording respiratory rate, eye and eyelid movements, and general motor activity in the form of a graph (kimogram) in infants of different ages. The authors noted the age-related dynamics of the processes occurring during sleep, dividing them into three periods: first – from birth to 1–2 months, second – from 1–2 months to 2 years, and third – from 2 years. The authors considered the second period, “with its wave-like pattern of sleep”, to be the most interesting “in terms of analysis”, as it most vividly reflected the dynamics of physiological processes during sleep.

The discovery by Denisova and Figurin in 1926 of periodic processes during sleep, including the phase activity of eye movements with a period of about 50 minutes, respiration and general motor activity leaves no doubt about the priority of Russian scientists in detecting the “rapid eye movements” sleep phase (REM sleep) and crowns all the main stages of the development of Russian sleep research on at the global level, from the first scientific work in the world history in the field of sleep research, published by Prof. M.M. Manaseina in 1892 up to I.N. Pigarev’s visceral theory of sleep.

Combined hereditary pathology (“double trouble”) in a patient and/or family, previously considered a rarity, is being identified increasingly often due to the development of modern genetic diagnostic methods. We describe 13 patients from 12 families with two hereditary diseases of the nervous system, verified by DNA analysis. The spectrum of diseases includes 23 nosological forms, including a number of rare ones. The cases differ in their diagnostic pathways (clinical diagnoses of two diseases and their laboratory confirmation; an unusual clinical presentation of the first disease followed by a targeted search for the second; unexpected findings during molecular genetic testing) and DNA analysis methods (massive parallel sequencing: panel, whole-exome and whole-genome sequencing; targeted methods: sequencing of individual genes and testing for common pathogenic variants; molecular cytogenetic methods). Among the identified gene variants, 8 have not been previously described. The cases are discussed in comparison with literature data on neurogenetic “double troubles”.