Myasthenia gravis: understanding treatment patterns and direct medical costs in the Czech Republic.

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 descriptive cohort study using health administrative claims data from the Czech Republic covering more than 1,500 prevalent MG patients.

Burden of Myasthenia Gravis in the Czech Republic: Analysis of the Nationwide Patient Registry.

Introduction: 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.

Methods: 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 analysis, all patients enrolled in the registry, regardless of their date of diagnosis or date of enrolment, were included.

Trunk muscle dysfunction in patients with myotonic dystrophy type 2 and its contribution to chronic low back pain.

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).

Genetic findings in Czech patients with limb girdle muscular dystrophy.

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 supposed pathogenic effect were identified.

Adherence and Effect of Home-Based Rehabilitation with Telemonitoring Support in Patients with Chronic Non-Specific Low Back Pain: A Pilot Study.

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, including patient-oriented measures and a functional assessment-a battery of tests that comprehensively evaluated trunk muscle function.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

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 healthcare delivery worldwide, necessitating rapid measures implementation by health care providers (HCPs) to protect patients from acquiring SARS-CoV-2 while maintaining the best care and treatment.

Predictive factors for a severe course of COVID-19 infection in myasthenia gravis patients with an overall impact on myasthenic outcome status and survival.

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-19.

Methods: We evaluated clinical features and outcomes after COVID-19 in 93 MG patients.

Anti-Müllerian hormone as an ovarian reserve marker in women with the most frequent muscular dystrophies.

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.

The Association of methylprednisolone dosing to cessation of myotonia in a patient with myotonic dystrophy type 1.

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 expressed as relaxation time after voluntary contraction and as a patient-reported outcome using the Czech version of the Myotonia Behavior Scale. The patient was being treated for a flare of ulcerative colitis, starting with 32 mg of methylprednisolone and reducing the dose by 4 mg a week.

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

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.

Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2.

Introduction: The objective of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and 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 dynamometer was used for all measurements. The relaxation time after voluntary contraction was measured in 20 patients with DM1, 25 patients with DM2, and 35 healthy controls.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

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.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

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) and the spectrum of these causes.

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Background: Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes.

Methods: PCR-sequencing analysis; sequence capture and targeted resequencing.

Outcomes and their predictors in lumbar spinal stenosis: a 12-year follow-up.

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 outcome, objective clinical outcome and its predictors, any correlation between subjective and objective outcome, and the development of changes in radiological and electrophysiological parameters after 12 years.

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

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 within each monomer.

Neurological impairment score in lumbar spinal stenosis.

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 spinal stenosis (NIS-LSS)] for the assessment of neurological impairment in the lower limbs of patients with LSS, then performed a validation study to facilitate its implementation in the routine clinical evaluation of patients with LSS.

Prediction of long-term clinical outcome in patients with lumbar spinal stenosis.

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) with clinically symptomatic mild-to-moderate LSS were re-examined after a median period of 88 months and their clinical outcomes classified as satisfactory (34 patients, 60.

Towards a predictive model for post-stroke delirium.

Primary Objective: To assess predisposing and precipitating risk factors and create a predictive model for post-stroke delirium.

Research Design: A prospective observational study in a cohort of consecutive patients with ischemic stroke or intracerebral haematoma admitted within 24 hours of stroke onset.

Methods: Patients were assessed daily for delirium during the first week by means of DSM-IV criteria and risk factors were recorded.

Poststroke delirium incidence and outcomes: validation of the Confusion Assessment Method for the Intensive Care Unit (CAM-ICU).

Objective: 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.

Design: A prospective observational cohort study.

Setting: The stroke unit of a university hospital.

Are subjects with spondylotic cervical cord encroachment at increased risk of cervical spinal cord injury after minor trauma?

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 for traumatic episodes that may have involved injury to the cervical spine. A questionnaire and data file analysis were employed to highlight whatever hypothetical relationship might emerge with the development of symptomatic myelopathy.

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

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 mutation creating a premature termination codon (p.

Presymptomatic spondylotic cervical myelopathy: an updated predictive model.

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 previously published model predictive for the development of clinically symptomatic SCM, and to assess the early and late risks of this event in a larger cohort of P-SCCC subjects.