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Neuromuscular Diseases

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Vol 12, No 1 (2022)
View or download the full issue PDF (Russian)
https://doi.org/10.17650/2222-8721-2022-12-1

LECTURES AND REVIEWS

10‑20 816
Abstract

Quantitative analysis of skeletal muscles in cerebral palsy is an important but unsolved problem. Ultrasound elastography is a group of diagnostic methods that allow visualizing tissue stiffness, measuring and displaying biomechanical properties of tissues. The aim of our study was to conduct a systematic analysis of literature on ultrasound elastography of skeletal muscles in children with cerebral palsy.
A literary search for keywords in the databases PubMed, Google Scholar, eLIBRARY was carried out. The inclusion criteria were nosology (cerebral palsy), age (up to 18 years) and the study design (original study in ultrasound elastography of the skeletal muscler), as well as the availability of detailed information about the technical issues, demographic and clinical data.
The final analysis included 20 publications. Patients with hemiplegic cerebral palsy were most often studied, with the healthy side used as a control, shear wave elastography was used more often, in which both share wave velocity and shear modulus were assessed, and linear probes were used more often. The most frequent anatomical objects were the calf muscles. Most often, elastography was used to assess the results of botulinum therapy, and demonstrated an increase in muscle elasticity after treatment.
Ultrasound elastography as a method od assessment of the mechanical properties of skeletal muscles in children with cerebral palsy cannot be considered suitable as a routine study at the moment. But the method showed promising results for the research purposes: all the publications we analyzed demonstrated significant difference in elastography indicators both when comparing with unaffected limb or with healthy controls. Positive changes were also detected after various therapeutic interventions aimed to reducing muscle tone and retraction e. g. botulinum toxin injections.
The absence of a unified approach to muscle elastography in children with cerebral palsy was demonstrated, both for data obtaining and interpretation. In general, ultrasound elastography of the skeletal muscles in children with cerebral palsy is a promising method for qualitative and quantitative assessment of muscle tissue that requires further development. Improvement of technology, standardization of technique and measurements will further expand the usage of this method.

21-28 786
Abstract

Amyotrophic lateral sclerosis is a neurodegenerative disease with a steady and rapid progression, manifested, in addition to the loss of strength of the muscles of the limbs and trunk, the development of fatal bulbar and respiratory disorders. Due to the need for early detection of this pathology, a large number of diagnostic tests have been proposed, which make it possible to suspect a motor neuron disease in a patient with a high probability. However, due to the polymorphic clinical picture of the disease, currently there are diagnostic situations in which existing methods do not allow to establish a reliable diagnosis or it becomes possible only at the later stages of the disease. This review examines the modern possibilities of ultrasound examination of peripheral nerves and muscles in the diagnosis and differential diagnosis of amyotrophic lateral sclerosis.

ORIGINAL REPORTS

29-38 2113
Abstract

Objective: to analyze the safety and evaluate the effectiveness of therapy with onasemnogene abeparvovec in patients with spinal muscular atrophy in real clinical practice based on the experience of using the drug in the neuromuscular center of Research Clinical Pediatric Institute of Pirogov Russian National Research Medical University.
Materials and methods. Patients with spinal muscular atrophy received therapy with onasemnogene abeparvovec based on the prescription of the drug according to vital indications by a council of physicians of Federal institutions (the availability of the drug was carried out within the framework of the MAP Program (global program of managed access MAP to AVXS-101 for eligible patients in countries, where it is not approved by regulatory authorities (NCT03955679), through funding from the charitable foundations, as well as through funding from the state fund “Circle of Kindness”. The drug tolerance was assessed and the analysis of side effects after drug administration was based on the criteria for adverse events (General criteria Adverse Event Terminology (CTCAE) v. 5.0) Patient motor function was assessed prior to treatment initiation and every 3–6 months after therapy using the Philadelphia Pediatric Hospital’s CHOP INTEND scale, total motor development based on Hammersmith Hospital Neurological Assessment Scale in Young Children, Part 2 (HINE-2), and the acquisition of new motor skills.
Results. 41 children aged 5 to 47 months (weighing no more than 21 kg) received therapy with onasemnogene abeparvovec in the period from April 2020 to December 2021. Adverse events (hyperthermia, decreased appetite, nausea, vomiting) were registered in all patients with different degree of severity. Elevated levels of transaminases greater than 2 times the upper limit of the normal range were observed in 32 patients (78 %), thrombocytopenia in 9 patients (22 %). 15 patients (36 %) required a dose adjustment of corticosteroids.
17 patients underwent assessment of motor scales after 6 months, 10 children were assessed after a year. The average improvement on the HINE-2 scale was 3.3 / 4.4 points, respectively. The average improvement on the CHOP INTEND Scale was 7.1 / 9.4 points after 6 / 12 months of therapy.
Conclusion. The efficacy and safety of onasemnogene abeparvovec have been demonstrated in real clinical practice in the treatment of spinal muscular atrophy for children in different age groups with a body weight of no more than 21 kg.

39-48 1365
Abstract

Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are characterized by gradual phenotype development and have a partially overlapping spectrum of manifestations, which complicates diagnosis establishing, especially at the stage of clinical onset. At the same time, the emergence of new pathogenetic therapy and the high risk of transmission to descendants actualize the necessity of early diagnosis. DNA tests allow us to reliably confirm the presumed diagnosis. This article presents a review of neurofibromatoses, their clinical features and courses, modern diagnostic criteria and indications for DNA tests.

CLINICAL DISCUSSION

49-55 1123
Abstract

Vascular myelopathy is a variant of acute or subacute lesions of the spinal cord as a result of circulatory disorders in the local vascular basin or hemodynamic changes in the vessels of distant localization.
A clinical case of a patient with vascular myelopathy at the thoracic level is presented, the anamnesis of the disease, the results of examination and instrumental research methods with an assessment of the significance of diagnostic transcranial magnetic stimulation at the onset of the disease are presented.
The purpose of this publication is to demonstrate the informative value of diagnostic transcranial magnetic stimulation and magnetic resonance imaging in the onset of vascular myelopathy of the spinal cord.
A clinical case of a patient with vascular myelopathy at the thoracic level is presented, the history of the disease, the results of examination and instrumental methods of investigation are considered, with an assessment of the significance of diagnostic transcranial magnetic stimulation in the onset of the disease. A review of the literature was carried out in order to assess the information content of neurophysiological and neuroimaging studies in vascular myelopathy. In patients with onset of spinal cord infarction, the study of motor evoked potentials can demonstrate the involvement of cortico-spinal projections even in the absence of neuroimaging data of their damage during 48 hours.
The transcranial magnetic stimulation with the analysis of motor evoked potentials is a reliable tool for diagnosing damage to cortico-spinal projections in the onset of vascular myelopathy.



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ISSN 2222-8721 (Print)
ISSN 2413-0443 (Online)