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.
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-ambulatory DMD patients showed significant differences in mobility-related parameters.
View Article and Find Full Text PDFIntroduction: 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).
View Article and Find Full Text PDFLimb 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.
View Article and Find Full Text PDFHome-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.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDFBackground 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.
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.
View Article and Find Full Text PDFWe 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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFIntroduction: 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.
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.
View Article and Find Full Text PDFBackground: 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.
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.
View Article and Find Full Text PDFPrimary 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.
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.
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.
View Article and Find Full Text PDFNeuromuscul Disord
November 2009
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.
View Article and Find Full Text PDFSpondylotic 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.
View Article and Find Full Text PDFLimb 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 using reverse transcription-PCR, and at the DNA level using PCR and denaturing high performance liquid chromatography.
View Article and Find Full Text PDFLimb-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 examined the histopathologic and molecular pathologic findings in 14 Czech LGMD2A patients.
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