Showing papers in "Neuromuscular Disorders in 2022"

TL;DR: In a follow-up study of 107 patients with myasthenia gravis (MG) and 50 healthy controls, maximal shoulder, knee and ankle strength was measured using isometric dynamometry and related to the quantitative MG (QMG), the MG Composite (MGC), MG-activities of daily living (MG-ADL), MG quality of life 15-items (QOL15) and a 400 m walk test (400MWT) as mentioned in this paper .

TL;DR: In this article , the authors present outcome data on motor function, ventilation, nutrition, and language development of spinal muscular atrophy patients treated with nusinersen in Switzerland, where patients were 0.1-44.6 years old.

TL;DR: In this paper , the authors investigated the real-life safety data of the BNT162b2 COVID-19 vaccine in people with myasthenia gravis (MG), an anonymous survey was distributed to 142 MG patients.

TL;DR: In this article , the authors reported 7 cases of new-onset myasthenia gravis in timely association with SARS-CoV-2 vaccination, including the first paediatric case identified to date.

TL;DR: In this article , the authors reported 9 cases of bilateral facial palsy with paresthesias (BFP) in patients vaccinated against COVID-19 in the previous month.

TL;DR: The first porcine DMD model was generated by deletion of DMD exon 52 (DMDΔ52) in cultured kidney cells, which were used for somatic cell nuclear transfer to produce DMD Δ52 offspring as discussed by the authors .

TL;DR: In this article , a systematic review and meta-analysis was performed to summarize available evidence to identify biomarkers of spinal muscular atrophy (SMA) natural history and identify promising predictive biomarkers requiring further longitudinal examination.

TL;DR: In this paper , the role of pre-operative exercise and pyrexia as potential MH modifying factors was investigated, and the authors identified 41 cases with general anesthesias resulting in an MH event (GA+MH, n = 41) within 72 h of strenuous exercise and/or Pyrexia >37.5 °C prior to triggering anesthetic.

TL;DR: In this paper , the authors conducted a multi-institution study comparing mean 48-week changes in North Star Ambulatory Assessment (NSAA) total score between trial placebo arms and RWD/NHD sources, with and without adjustment for baseline prognostic factors.

TL;DR: An overview of current knowledge on anaesthesia and neuromuscular disorders was presented by van den Bersselaar et al. at the 2019 ENMC workshop on anaesthetic management as mentioned in this paper .

TL;DR: In this article , the authors followed prospectively five asymptomatic carriers of a family with ATTRV30M (p.Val50Met) mutation by different diagnostic tests for three years.

TL;DR: In this paper , a multiplex real-time PCR assay was used to identify newborns with homozygous SMN1 exon 7 deletion, and those newborns' specimens further underwent a droplet digital PCR assay for SMN2 copy number assessment.

TL;DR: In this article , the long-term efficacy, safety, and impact on immunoglobulin G (IgG) levels of rituximab in patients with myasthenia gravis (MG) was evaluated.

TL;DR: In this paper , a large cohort of type II and III spinal muscular atrophy patients assessed with the Revised Upper Limb Module (RULM) was found to show an overall progressive decline in upper limb function over 24 months.

TL;DR: In this article , the authors present a consensus regarding the optimal testing strategy for patients suspected of IIM and the format for reporting results to the clinician in order to enable optimal interpretation, and the research agenda to obtain reliable data on the test-characteristics of the immuno-assays for MSA.

TL;DR: In this paper , a literature search was performed using Medline, Embase and Cochrane Register for studies between 2000 and 2021 using the search terms “Chronic inflammatory demyelinating polyneuropathy” OR “Multifocal motor neuropathy, OR „Myelin associated glycoprotein” or “Distal acquired demyelin-associated neuropathy.

TL;DR: In this paper , the effect of 12-weeks lower limb low-load BFR resistance training in sIBM patients on satellite cells and myonuclei content, myofibre size and capillarization was investigated.

TL;DR: In this article , the BNT162b2/Pfizer and mRNA-1273/Moderna vaccines represent new vaccine technology relying on administration of mRNA encoding SARS-CoV-2 viral spike protein encased in lipid nanoparticles.

TL;DR: In this article , the authors identify genes with pathogenic identified variants as causes of mtDNA depletion and deletions syndrome (MDDS), which encompass diseases characterized by the presence of mt DNA alterations (depletion, multiple deletions, and somatic point mutations) in affected tissues.

TL;DR: In this article , the authors presented two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology, and thus recommend electrodiagnostic study in neonates and infants with PURA, and consideration of salbutamol as a therapeutic option.

TL;DR: In this paper , lower limb MRI scans from patients with either genetically or clinically confirmed diagnoses of childhood onset distal myopathy or distal spinal muscular atrophy were used to identify an MRI signature to distinguish myopathic and neurogenic conditions.

TL;DR: In this article , the authors evaluated the clinical features and treatment response of patients with muscular sarcoidosis and found that muscle imaging showed muscle edema in all and replacement of muscle tissue by fat in half of patients.

TL;DR: In this article , the authors measured motion of the diaphragm relative to that of the thoracic wall (cranial-caudal ratio vs. anterior posterior ratio; CC-AP ratio), and changes in the diophragmatic curvature (diaphagm height and area ratio) during inspiration in 12 adults with a neuromuscular disease having signs of respiratory muscle weakness, 18 healthy controls, and 35 adult Pompe patients.

TL;DR: In this paper , the authors described clinical and histological presentation, treatment, and outcome of eosinophilic myositis based on a systematic review of all published histologically proven cases of EOSINophilic Myositis.

TL;DR: This article showed that α-dystroglycan is present at essentially normal levels in a family of Labrador retrievers and revealed an approximately 400kb tandem genomic DNA duplication including exons 2-7 of the DMD gene that was inserted into intron 7.

TL;DR: In this article , a scoping review aims to elucidate the cardiac involvement in LAMA2-related muscular dystrophy and SELENON(SEPN1)-related myopathy.

TL;DR: In this paper , a systematic review was conducted to document symptoms and signs associated with genitourinary and lower gastrointestinal systems in the DM1 population; impacts on quality of life and participation; and efficacy of treatments available to treat those conditions.

TL;DR: In this article , the authors identify serum-based miRNA biomarkers for these rare muscular dystrophies, through high-throughput next-generation RNA sequencing, and provide new evidence that certain circulating miRNAs may be used as biomarkers.

TL;DR: For instance, the authors found that spinal muscular atrophy (SMA) patients showed poorer performance in visuospatial abilities, executive functions and language as compared to healthy controls.