Stanislav Vohanka

• University Hospital Brno

Background Myasthenia gravis (MG) is a rare autoimmune disorder with significant clinical implications, including life-threatening myasthenic crises and exacerbations. Understanding real-world treatment patterns, especially associated direct medical costs, is essential for the effective management of healthcare delivery. Methods We conducted a des...

Background The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials. Objectives This study aimed to assess DM2 patients included in the network, and to analyse their socio-demographic and clinic...

The main goal of this study was to describe the Czech population of patients with MG in terms of demographics, disease characteristics, management approaches, and treatment trends. We selected all patients, both incident and prevalent, who were enrolled in the Czech MyReg registry between August 24, 2015 and November 19, 2021. For the descriptive a...

In this prospective study involving 37 Duchenne muscular dystrophy (DMD) patients aged 8–18 years and older, we examined the impact of neurological and cardiac factors on quality of life (QoL). Our findings revealed a negative correlation between upper limb movement and overall mobility, self-service, and usual activities. Ambulatory and non-ambula...

In this prospective study involving 37 Duchenne muscular dystrophy (DMD) patients aged 8–18 years and older, we examined the impact of neurological and cardiac factors on quality of life (QoL). Our findings revealed a negative correlation between upper limb movement and overall mobility, self-service, and usual activities. Ambulatory and non-ambula...

Introduction Myotonic dystrophy type 2 (MD2) presents with a varied manifestation. Even though the myopathy in these patients is more widespread, axial musculature involvement is one of the most prominent conditions. MD2 patients also often report chronic low back pain (CLBP). The purpose of this study was to evaluate trunk muscle function, includi...

Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a sup...

Home-based exercises have been on the rise recently. This pilot study aimed to assess the adherence and effect of a home-based rehabilitation programme using telemonitoring in patients with chronic non-specific low back pain (CNLBP). Twenty-seven patients with CNLBP were enrolled in the study, each of whom underwent a neurological assessment, inclu...

Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating subtle neurological signs such as mild weakness or sensory deficits. The COVID-19 pandemic has disrupted healthc...

A comprehensive assessment of trunk function, including the lumbar extensor muscles, appears to be important in various conditions affecting axial musculature. This pilot cross-sectional observational study aimed to define a battery of tests that comprehensively assess trunk muscle function (strength and muscular endurance). Sixty subjects without...

We would like to thank the editor of Eur J Neurol for the opportunity to respond to the issues raised in the letter to editor and to clarify certain aspects of our methodology in relation to these concerns. We would also like to thank Dr. Giuliana Galassi and Dr. Alessandro Marchioni from University of Modena in Italy for their interest in our pape...

Introduction/Aims Individuals with refractory generalized myasthenia gravis (gMG) who have a history of rituximab use and experience persistent symptoms represent a population with unmet treatment needs. The aim of this analysis was to evaluate the efficacy and safety of eculizumab in patients with refractory anti-acetylcholine receptor antibody-po...

Background There is an unmet need for treatment options for generalised myasthenia gravis that are effective, targeted, well tolerated, and can be used in a broad population of patients. We aimed to assess the safety and efficacy of efgartigimod (ARGX-113), a human IgG1 antibody Fc fragment engineered to reduce pathogenic IgG autoantibody levels, i...

Background and purpose Myasthenia gravis (MG) patients could be a vulnerable group in the pandemic era of Coronavirus 2019 (COVID-19) mainly due to respiratory muscle weakness, older age, and long-term immunosuppressive treatment. We aimed to define factors predicting the severity of COVID-19 in MG patients and risk of MG exacerbation during COVID-...

Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reserve. A total of 21 females with myotonic dystrophy type 1 (MD1), 25 females with myotonic dystrophy ty...

We report the case of a patient suffering from duplicity of myotonic dystrophy type 1 and ulcerative colitis whose treatment for ulcerative colitis included repeated administrations of descending doses of methylprednisolone and in whom we found an association between methylprednisolone dosing and cessation of myotonia. Myotonia severity was express...

The original version of this article [1] unfortunately included an error to an author’s name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been included in the author list of this Correction article.

Introduction The aim of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2), to compare the myotonia severity and to correlate this objective outcome with a subjective scale – the Myotonia Behaviour Scale (MBS). Methods A commercially‐available dynamome...

Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with...

Anestezie představuje složitou situaci v léčbě pa cientů s nervosvalovými chorobami. Obavy z prolomení křehké rovnováhy mohou vést k odkládání potřebných zákroků na jedné straně a závažným rizikům při nesprávném postupu na straně druhé. Myastenie je onemocnění, kde nehrozí riziko maligní hypertermie, je zde změněná citlivost k periferním myorelaxan...

Anaesthesia is a complex situation during the treatment of patients with neuromuscular diseases. On the one hand, concerns about breaking the fragile balance can lead to postponing of necessary interventions, but on the other hand, it can lead to serious risks with improper approaches. Myasthenia is a disease where there is no risk of malignant hyp...

Background: Myotonia is a cardinal symptom of myotonic disorders. The most typical symptom of myotonia is a difficulty in releasing a forceful handgrip. It significantly deteriorates the quality of life to a degree that is disabling. Therefore, many drugs have been tested in myotonia therapy. One of the main issues of clinical trials has been the l...

Background: Complement is likely to have a role in refractory generalised myasthenia gravis, but no approved therapies specifically target this system. Results from a phase 2 study suggested that eculizumab, a terminal complement inhibitor, produced clinically meaningful improvements in patients with anti-acetylcholine receptor antibody-positive r...

Aim: Statin therapy might be rarely as sociated with production of specific autoantibodies against 3-hydroxy-3-methylglutaryl coenzyme A reductase (anti-HMGCR), proximal muscle weaknes s, high creatine kinase (CK) levels and myofibril necrosis in muscle bio psy. Presence of these symptoms established the main criteria of a new clinical unit cal 1ed...

Myotonic dystrophy is the most frequent muscular dystrophy of adult age characterised by muscle weakness, myotonia, cataracts, and autosomal dominant inheritance. The disease is caused by trinucleotide expansion in the DMPK gene in case of myotonic dystrophy type 1 (MD1) and tetranucleotide expansion in the CNBP/ZNF9 gene in myotonic dystrophy type...

Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene-by-gene diagnostics. We present Czech NMD patients with a genetic cause identified using targeted next-generation sequencing (NGS...

Background and objective Single fiber electromyography (SFEMG) is a valuable tool in the diagnostics of the neuromuscular transmission. The objective is to evaluate the sensitivity of SFEMG in Myasthenia Gravis (MG). Patients and methods The group of 143 patients suffering from MG was examined. Disease was classified as ocular in 26% cases, oculob...

Spinal epidural lipomatosis (SEL) is a condition associated with pathological fat accumulation in the epidural area of the spinal canal. The disorder is likely caused by the use of corticosteroids, obesity, endocrinal disorders (especially endogenous overproduction of cortisol), although, in some cases, no cause is immediately evident. SEL rarely b...

Objective: In 2008, the new MG Composite score was constructed from selected items of existing scales of myasthenia (QMG, MMT-MG, MG-ADL). The aim of this study was to validate the Czech version of MGC and to check reliability of the new scale in a group of patients from the Neuromuscular Centre of the University Hospital in Brno. Methods: The Czec...

Pompe disease (glycogen storage disease type 2, acid maltase deficiency) is inherited auto-somal recessive metabolic disorder caused by deficiency of acid alpha-glucosidase and resulting in lysosomal glycogen storage in various tissues, mainly heart and skeletal muscle. Continuous spectrum of phenotypes from the rapidly progressive infantile form t...

Myotonic dystrophy (DM) is a multisystem disorder characterized by skeletal muscle and multiple organ impairment. The aim of the study is to compare our local data from the registry with that known in other countries. The data from the local part of Czech national registry of myotonic dystrophy including focused questionnaires were evaluated. The p...

The patient registries belong to the core activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and answer the questions concerning on epidemiologic data. Besides of the local hospital-based databases and registries we can find in Czech Republic four national registries of hereditary neuro...

Purpose: The aim of this prospective observational cohort study was to evaluate long-term outcomes in patients with mild-to-moderate lumbar spinal stenosis (LSS) and to analyse the predictors of clinical outcomes. Methods: A group of 53 patients were re-examined after a median period of 139 months. Evaluations were made of subjective clinical ou...

Abstract BACKGROUND: Subcutaneous pegylated interferon (peginterferon) beta-1a is being developed for treatment of relapsing multiple sclerosis, with less frequent dosing than currently available first-line injectable treatments. We assessed the safety and efficacy of peginterferon beta-1a after 48 weeks of treatment in the placebo-controlled phase...

Abstract BACKGROUND: Subcutaneous pegylated interferon (peginterferon) beta-1a is being developed for treatment of relapsing multiple sclerosis, with less frequent dosing than currently available first-line injectable treatments. We assessed the safety and efficacy of peginterferon beta-1a after 48 weeks of treatment in the placebo-controlled phase...

Various forms of muscular dystrophies are mostly classified as rare diseases and rare diseases have received considerable attention from the European Union over the past few years. Based on the Council Recommendation of 8 June 2009 on an action in the field of rare diseases, the Czech government has embraced the National Action Plan on Rare Disease...

Aim: To evaluate validity of electrophysiological examination in the differential diagnostics of lumbar spinal stenosis (LS) and diabetic polyneuropathy (DPN). Methods: Electrophysiological parameters were examined in 68 patients with clinically symptomatic LS, in 28 patients with DPN, and in a group of 32 healthy volunteers. Results: Electrophysio...

Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) or autosomal recessive MC (Becker disease). The ClC-1 protein is a homodimer with a separate ion pore...

Myotonic dystrophy is a dominantly inherited disorder with multisystem clinical features. In Czech Republic (Central Europe), the type 2 (MD2) is more frequent than type 1 (MD1). Both types share some clinical features, but also have substantial differences in the clinical manifestation. Muscle pain is very frequent in both types, but it is conside...

Background and aim The Oswestry Disability Index (ODI) is an interview-based instrument generally accepted as a measure of disability in patients with lumbar spinal stenosis (LSS). There is, however, no generally accepted measure for neurological impairment in LSS. We therefore developed a scoring system [neurological impairment score in lumbar spi...

Introduction: Cardiovascular disease is the main cause of death in the Czech Republic. From 1958, we observe a decrease in mortality from cardiovascular disease as well as reduced incidence, including the incidence of stroke. Analysis of combined incidence of ischemic stroke in our country showed higher proportion of recurrence than in other wester...

Quantification of impairment in patients with lumbar spinal stenosis (LSS) should be based on assessment of the severity of clinical impairment and its impact on patient disability, rather than derived from a relative analysis of radiological findings. A range of scores and scales are used to assess patient status and there are several valid reason...

Myotonia is delayed skeletal muscle relaxation after voluntary contraction. It is associated with impaired chloride or, less frequently, sodium channels in the muscle membrane. The chloride channel defect may be caused by a primary mutation in the skeletal muscle chloride channel gene (CLCN1) or it is secondary as in myotonic dystrophy caused by po...

Limb girdle muscular dystrophies (LGMDs) represent a group of clinically and genetically heterogeneous disorders predominantly affecting shoulder and pelvic girdles. To date, 15 forms (2A-N) of autosomal recessive (AR) and eight forms (1A-H) of autosomal dominant LGMDs have been described. LGMD2A is the most frequent form of LGMD in many European c...

The patient registries are the key activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and answer the questions concerning of the prevalence of neuromuscular disorders. Preliminary survey in the nine neuromuscular centers and four genetic laboratories in Czech Republic (CR) revealed abou...

Purpose The natural course of lumbar spinal stenosis (LSS) fluctuates and is not necessarily progressive. The aim of this study was to explore the predictors of clinical outcome in patients with LSS that might eventually help to optimise the therapeutic choices. Methods A group of 56 patients (27 men, 29 women, median age 55; range 31–72 years) wit...

To assess predisposing and precipitating risk factors and create a predictive model for post-stroke delirium. A prospective observational study in a cohort of consecutive patients with ischemic stroke or intracerebral haematoma admitted within 24 hours of stroke onset. Patients were assessed daily for delirium during the first week by means of DSM-...

To describe the epidemiology and time spectrum of delirium using Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria and to validate a tool for delirium assessment in patients in the acute poststroke period. A prospective observational cohort study. The stroke unit of a university hospital. A consecutive series of 129 pat...

Myotonic dystrophy type 2 (DM2) results from the (CCTG)n expansion in the ZNF9 gene located on the long arm of chromosome 3. The pathogenesis of DM2 includes sequestration of muscleblind-like (MBNL) proteins by pathological CCUG exp ZNF9 mRNA transcripts, leading to abnormal splicing of target pre-mRNAs and, consequently, to the development of the...

Creatine kinase is one of the key enzymes of the energy cell system. Creatine kinase catalyses the conversion of creatine and consumes adenosine triphosphate (ATP) to create phosphocreatine and adenosine diphosphate (ADP) and vice versa. Phosphocreatine serves as an energy reservoir, especially in active tissues. Cytosolic CK consist of three, mito...

Introduction: The Oswestry questionnaire (The Oswestry Disability Index, ODI) evaluates the impact low back pain has on activities of daily living through low back pain, quantifies patients' subjective complaints and measures the level of disability. Even though multiple versions of the ODI are available, the authors now recommend version 2.1a that...

The aim of the study was to analyse the risk of symptomatic myelopathy after minor trauma in patients with asymptomatic spondylotic cervical spinal cord encroachment (ASCCE). In a cohort of 199 patients with ASCCE, previously followed prospectively in a study investigating progression into symptomatic myelopathy, the authors looked retrospectively...

Congenital myotonia is caused by mutations in the CLCN1 chloride channel gene. It can be inherited as either an autosomal dominant (Thomsen's myotonia) or a recessive (Becker's myotonia) trait. During 2008-2010, mutations in the chloride channel were found in 7 patients with myotonia, making it the third most frequent cause of myotonia in our recor...

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a common inflammatory neuropathy that can be progressive, stepwise progressive, or relapsing and remitting. To further evaluate the long-term safety and tolerability of immune globulin intravenous, 10% caprylate-chromatography purified immune globulin intravenous in CIDP. Randomize...

The first part of the article focuses on description of the methodology of the clinical practice guidelines and clinical standards development as used by the National Reference Centre of the Czech Republic (NRC) in cooperation with medical associations. The methodologies are based on foreign resources. The clinical practice standards are developed...

Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene by screening performed by reverse transcription-PCR, protein truncation test, and DNA sequencing. We describe three patients with a m...

Monoradicular or polyradicular lumbosacral involvement is typical of lumbar spinal stenosis. Needle electrode examination is considered the most useful procedure for the evaluation of patients with suspected radiculopathy. The clinical relevance of motor and somatosensory evoked potentials is, however, uncertain. The aim of this study was to evalua...

Lumbar spinal stenosis (LSS) is an osteo-ligamentous narrowing of the spinal or nerve root canal in the lumbar area. Most frequently, LSS results from secondary spondylotic and spondylarthrotic changes. Congenital stenosis is one of the less frequent causes of nerve structure compression but represents an important risk factor in the development of...

Spondylotic cervical cord compression detected by imaging methods is a prerequisite for the clinical diagnosis of spondylotic cervical myelopathy (SCM). Little is known about the spontaneous course and prognosis of clinically "silent" presymptomatic spondylotic cervical cord compression (P-SCCC). The aim of the present study was to update a previou...

Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the muscle-specific proteolytic enzyme calpain-3. About 356 unique allelic variants of CAPN3 have been identified to date. We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level us...

The histopatological features of both so far defined types of myotonic dystrophy (DM1 and DM2) are very similar, the affected muscles show a typical pattern of changes. The examination of muscle biopsies in situ may also bring about revealing of expansions of CUG or CCUG repetitons in transcripts of the mutated DNA, the genetic basis of the disease...

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal-recessive disorder characterized by selective atrophy and progressive weakness of proximal girdle muscles. LGMD2A, the most prevalent form of LGMD, is caused by mutations in the CAPN3 gene that encodes the skeletal muscle-specific member of the calpain family, calpain-3 (p 94). We exam...

Myotonic dystrophy of the 2nd type is caused by expansion of four nucleotides in gene ZNF9 (,,zinc-finger protein 9") on the 3rd chromosome. If compared with myotonic dystrophy of the 1st type (19q13.3), it is a variant occurring mainly in Europe and considered to be of lesser frequency. Both types have a number of common clinical features, but als...