Neurology for Practice, 2022, issue 1

Editorial

Slovo úvodem

prof. MUDr. Ivan Rektor, CSc., FCMA, FANA, FEAN

Neurol. praxi. 2022;23(1):3

Main topic

Nervosvalová onemocnění - úvod k hlavnímu tématu

doc. MUDr. Hana Ošlejšková, Ph.D., editorka hlavního tématu

Neurol. praxi. 2022;23(1):8 | DOI: 10.36290/neu.2022.013

Spinal muscular atrophy in childhood – actual treatment options

MUDr. Jana Haberlová, Ph.D., RNDr. Petra Hedvičáková, MUDr. Petra Fuchsová, MUDr. Markéta Jílková, MUDr. Lucie Holubová, MUDr. Tereza Doušová

Neurol. praxi. 2022;23(1):9-13 | DOI: 10.36290/neu.2022.014

Spinal muscular atrophy caused by the SMN1 gene is a degenerative disease of alfa motor neurons in the anterior horn of the spinal cord. Clinically, it is characterized by progressive muscular weakness. It is a rare disease with a 1/10,000 incidence. Since 2016 it has been a causally treatable disease. Nowadays there are already three causal drugs based on gene therapy: nusinersen (Spinraza), risdiplam (Evrysdi) and onasemnogene abeparvovec (Zolgensma). The most important factor determining effectiveness is the promptness in starting the therapy, due to this there is an acute need of early diagnosis. Therapy of symptomatic patiens is never able to...

Congenital non-5q spinal muscular atrophy in children

MUDr. Eva Trúsiková, MUDr. Katarína Okáľová, PhD., prof. MUDr. Karol Králinský, PhD.

Neurol. praxi. 2022;23(1):14-17 | DOI: 10.36290/neu.2021.074

Spinal muscular atrophies (SMAs) are genetic disorders that are clinically characterized by progressive muscle weakness and atrophy due to degeneration of the anterior horn cells. Initially, the disease was considered a purely autosomal recessive condition caused by mutations in the SMN1 gene on chromosome 5q13. However, recent developments in next-generation sequencing technologies have revealed a growing number of clinical conditions referred to as non-5q forms of spinal muscular atrophy. Although non-5q forms of SMA are very rare, they are clinically and genetically very heterogeneous diseases.

Congenital muscular dystrophies

MUDr. Ondřej Havlín, MUDr. Zdenka Bálintová, MUDr. Lenka Juříková, doc. MUDr. Hana Ošlejšková, Ph.D.

Neurol. praxi. 2022;23(1):18-23 | DOI: 10.36290/neu.2021.070

From a historical definition, congenital muscular dystrophies are a heterogenous group of muscle disorders characterized by early-onset muscle disease with histopathological evidence of a dystrophic process. Recent progress of molecular genetics has changed the perspective of the entire group. Continuous deciphering of the genetic background and increasing number of genetically confirmed cases highlights a significant genetic and clinical heterogenicity and makes former clinico-histopathological classifications less useful. It also blurs the classification barriers between congenital muscular dystrophies, limb girdle muscular dystrophies and congenital...

Metabolic myopathies

MUDr. Hana Kolářová, Ph.D., doc. RNDr. MUDr. Pavel Ješina, Ph.D.

Neurol. praxi. 2022;23(1):24-32 | DOI: 10.36290/neu.2021.049

Metabolic myopathies are a heterogeneous group of hereditary metabolic disorders characterized by impaired energy metabolism in skeletal muscle. It includes mitochondrial diseases; glycogen storage diseases; fatty acid β-oxidation disorders; carnitine metabolism disorders; and other rather rare entities. From a clinical point of view, metabolic myopathies can be categorized into two different groups: a) those manifesting with acute or subacute exercise intolerance and b) those with fixed symptoms, such as muscle weakness and hypotonia. Present review article is primarily focused on key clinical and laboratory findings of metabolic myopathies that...

Neuropsychiatric comorbidities in patients with DMD

MUDr. Lenka Juříková, MUDr. Pavlína Danhofer, Ph.D., MUDr. Zdenka Bálintová, Mgr. Jana Pejčochová, doc. MUDr. Hana Ošlejšková, Ph.D.

Neurol. praxi. 2022;23(1):33-35 | DOI: 10.36290/neu.2021.069

Duchenne/Becker muscular dystrophy, caused by mutations in dystrophin gene,is one of the most frequent muscular dystrophies. Symptoms of DMD include typical movement problems, cardiomyopathy and respiratory failure most often occur in the third decade. In many patients we can find not only movement problems but also neuropsychiatric disorders, esp. autism spectrum disorders, attention-deficit hyperactivity disorder and obsessive-compulsive disorder. Their incidence is higher than in other population. Probabaly it due to lack of dystrophin in neurons.

Hereditary neuropathies in childhood

prof. MUDr. Pavel Seeman, Ph.D.

Neurol. praxi. 2022;23(1):36-41 | DOI: 10.36290/neu.2021.064

Hereditary neuropathies are a heterogeneous group of genetically determined peripheral nerve diseases. In the vast majority of patients, they occur by 20 years of age, most typically during school age between ages 6 and 15, and are manifested by slowly progressive muscle weakness distally and, later on, by atrophies, initially and more predominantly in the lower limbs, as well as by sensory disturbance of varying severity with a distal maximum, sometimes even by trophic changes. The onset of complaints with initial symptoms of the disease in preschool age or after 20 years of age is rarer, but also possible, and is, to a great degree, related to the...

Acquired neuropathies in children

MUDr. Katarína Tabačáková, MUDr. Eva Trúsiková, MUDr. Katarína Okáľová, PhD., prof. MUDr. Karol Králinský, PhD.

Neurol. praxi. 2022;23(1):42-45 | DOI: 10.36290/neu.2021.063

Neuropathy (peripheral nerve damage) is divided into mononeuropathy (involvement of one peripheral nerves) and polyneuropathy (two or more affected nerves) often referred to simply as neuropathy. The main causes of mononeuropathy in children are injuries. In polyneuropathies, the causes are mainly hereditary, followed by immune-mediated neuropathies (dysimmune/autoimmune), neuropathies in acute infections, toxic (most often in cancer treatment), malnutrition and metabolism. Although acquired neuropathies in children are relatively rare, the damage becomes irreversible and mutilating at a misdiagnosis. Only early diagnosis and treatment can reverse...

Congenital myasthenic syndromes: rare, but treatable diseases

MUDr. Miriam Adamovičová, Mgr. Jana Zídková, Ph.D.

Neurol. praxi. 2022;23(1):46-49 | DOI: 10.36290/neu.2021.085

Congenital myasthenic syndromes (CMS) are very rare and very variable. Recognition is not easy, but they are treatable diseases. Effect of treatment is variable, in some cases minimal, in some cases fundamentally changes the quality of life, it can mean the difference between life and death. Know-how and a single tube of blood for genetic testing could be sufficient for diagnosis. We present an overview of clinical symptoms, pathophysiology and classification of CMS types, diagnosis, differential diagnosis and treatment options.

Molecular genetic diagnostics of childhood muscular dystrophies

doc. RNDr. Lenka Fajkusová, CSc., Mgr. Jana Zídková, Ph.D.

Neurol. praxi. 2022;23(1):50-53 | DOI: 10.36290/neu.2021.071

Muscular dystrophies are rare diseases characterized by great clinical and genetic heterogeneity. The best known and most common muscular dystrophy of childhood is Duchenne muscular dystrophy, followed in a not entirely clear order by myotonic dystrophy 1, facioscapulohumeral muscular dystrophy 1 and muscular dystrophies from the group of congenital muscular dystrophies and limb-girdle muscular dystrophies. The identification of pathogenic variants in associated genes leads to a significant shift in understanding of the etiopathogenesis of disease, enables the prediction of the disease course of and possibly its targeted treatment.

The role of biopsy in the diagnosis of neuromuscular disorders in the molecular biological era

prof. MUDr. Josef Zámečník, Ph.D.

Neurol. praxi. 2022;23(1):54-56 | DOI: 10.36290/neu.2021.050

Nowadays, in times of new possibilities of molecular genetic testing, muscle biopsy is no longer the diagnostic method of choice in most myopathies. In hereditary myopathies, a biopsy is indicated only if the findings from molecular biological analysis is non-conclusive or does not correlate with the clinical phenotype of the disease. On the contrary, muscle biopsy is indicated in all cases of autoimmune processes - myositis, immune-mediated necrotizing myopathies, or vasculitis.

Review articles

Management of secondary-progressive multiple sclerosis

MUDr. Martin Elišák, Ph.D.

Neurol. praxi. 2022;23(1):57-62 | DOI: 10.36290/neu.2021.054

Although one of the goals of treatment of relapsing-remitting multiple sclerosis is to prevent or delay secondary progression, a condition in which there is irreversible deterioration of neurological findings unrelated to relapses, there are effective treatment and care options for these patients. In secondary progressive multiple sclerosis with activity (clinical in the form of relapses and/or on magnetic resonance imaging), there is now the possibility of effectively delaying severe disability and reducing the frequency of relapses by treatment with siponimod. In all patients with secondary progressive multiple sclerosis, comprehensive multidisciplinary...

Chronic pain after peripheral nerve injury

MUDr. Dana Vondráčková, MUDr. Helena Vorlíková

Neurol. praxi. 2022;23(1):63-68 | DOI: 10.36290/neu.2021.062

The article provides an overview of the pathophysiological mechanisms responsible for the development of chronic pain after nerve injury and especially of the strategies for its treatment. Special attention is given to the complex regional pain syndrome (CRPS) and phantom pain. Chronic pain is a very unpleasant consequence of peripheral nerve injury. The pain is not only the result of the injury itself but is maintained and even augmented by the mechanisms of peripheral and central sensitization. Therefore, adequate pain therapy must be started already in the acute stage of the injury. Correctly indicated and performed surgical procedure is essential...

Experience with shortened ocrelizumab infusion - ENSEMBLE PLUS study

doc. MUDr. Yvonne Benešová, Ph.D.

Neurol. praxi. 2022;23(1):70-74 | DOI: 10.36290/neu.2021.068

Ocrelizumab (OCR) is humanized monoclonal antibody selectively directed against CD20 + B cells that is approved for the treatment of relapsing remitting and primary progressive multiple sclerosis. OCR is administered intravenously for 3.5 hours. With observation and premedication will the patient spend about 5.5 hours in the infusion centre. The primary objective of the ENSEMBLE PLUS study was to compare the frequency and severity of infusion-related reactions (IRRs) between groups of patients with conventional and shorter 2-hours infusions occurring within or within 24 hours after the first randomized dose. In the population of 580 patients, IRR occurred...

Analgesics in neurology, their specific fealures and adverse effects

MUDr. Dana Halbichová

Neurol. praxi. 2022;23(1):76-83 | DOI: 10.36290/neu.2021.093

Each one of us has a lot of experience with pain management and painkillers, both professional and personal. The goal of this article is therefore to only point out what the specifics, advantages, risks and interactions of the representatives of individual groups are. It is not possible to encompass a complete summary of those - some of them are even not registered in the Czech Republic (flupirtine, nefopam) for pain management. In our country, methadon is a newly approved drug for the treatment of severe pain which cannot be influenced by non-narcotic painkillers. Co-analgetics are mentioned only peripherally, despite the fact that they are an inseparable...

From the boundary of neurology

Rehabilitation in post-Covid-19 patients (specifically those with multiple sclerosis)

Mgr. Klára Novotná, Ph.D., MUDr. Ingrid Menkyová, prof. MUDr. Eva Kubala Havrdová, CSc.

Neurol. praxi. 2022;23(1):84-89 | DOI: 10.36290/neu.2022.004

The article introduces the options of rehabilitation interventions that can be used to restore function and fitness after Covid-19 disease in patients with a chronic neurological disease - multiple sclerosis. Two individual case reports of patients are included to discuss the use of respiratory physiotherapy as well as the issue of restoring mobility and increasing fitness in post-Covid-19 patients.

Case report

Neck-tongue syndrome

MUDr. Michael Pipka, MUDr. Pavel Mencl

Neurol. praxi. 2022;23(1):90-92 | DOI: 10.36290/neu.2020.083

Neck-tongue syndrome is a rarely occurring disease which is included and defined in the International Classification of Headache Disorders (ICHD-3). The clinical manifestations of neck-tongue syndrome (NTS) are sudden-onset headache at the back of the neck and sensory-motor signs due to impairment of tongue innervation, occurring as a result of vigorous head movement. In the clinical practice, the diagnosis is made by exclusion, that is after ruling out more frequent and potentially more serious conditions, particularly vascular pathologies (pre/intracerebral artery dissection and subarachnoid haemorrhage). The treatment predominantly involves nonpharmacological...

From the History of Neurology

Hereditary chorea with a tendency to insanity and adult onset: 150 years since George Huntington and his disease

MUDr. Ján Necpál, MUDr. Michal Patarák, PhD.

Neurol. praxi. 2022;23(1):93-96 | DOI: 10.36290/neu.2022.015

Huntington's disease is a rare autosomal dominant incurable neurodegenerative disease, manifested by dementia, behavioral symptoms, chorea and other motor features. The disease bears his name after George Huntington (1850-1916), representing the third generation physician of Huntington´s family, working in East Hampton on the east part of Long Island, New York. Here, since his childhood, he could see several patients with a hereditary disease, described by him in a paper entitled "On chorea", published in The Medical and Surgical Reporter in 1872. In this article, he characterized chorea from the clinical point of view, and also the three main features...