Emergencies in Neuromuscular Disorders
This book provides a comprehensive overview of neuromuscular emergencies and their management. Each chapter, which focusses on the management of specific topics, begins with a brief, but sufficiently comprehensive, background to the conditions or specific situations it targets. Included in the book is the management of acute or subacute complications arising from a wide range of conditions including genetic and acquired disorders of muscle, anterior horn cell, toxic and inflammatory myopathies and neuropathies and inherited metabolic disorders including mitochondrial diseases. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 10, 2024 Category: Neurology Authors: Rosaline Quinlivan Tags: Book Review Source Type: research
Neuropathic pain
This small handy book, edited by two recognized experts Professor Nadine Attal and Professor Didier Bouhassira from France, both neurologists, specialized on the field of neuropathic pain, aims to provide a series of concise case studies, covering the complexity of neuropathic pain and its successful management. The book is part of the "What Do I Do Now? Pain Medicine" series of Oxford University press which utilizes a case-based didactic approach. The book contains 45 cases, divided in three sections, the first summarizing diagnosis and management of typical clinical scenarios, the second one focusing on common therapeuti...
Source: Neuromuscular Disorders - January 10, 2024 Category: Neurology Authors: Elena Enax-Krumova Tags: Book Review Source Type: research
Contracturing granulomatous myositis in a patient with rheumatoid arthritis: a case report
Granulomatous myositis is a myopathy associated with non-specific epithelioid granulomas in striated muscle. In a large review of a muscle biopsy database only 63 of 27301 muscle specimens (0.2%) interpreted over a 26-year period displayed intramuscular granulomas [1]. This rare entity is most frequently related to sarcoidosis, but other uncommon causes have been reported, including an idiopathic form (after exclusion of systemic disorders known to cause similar myopathological abnormalities) [2]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 9, 2024 Category: Neurology Authors: Willem De Ridder, Laurens Van Herck, Gert Cypers, Isabelle Ravelingien, Jonathan Baets Tags: Case report Source Type: research
European Joint Programme on Rare Diseases Workshop: LAMA2-Muscular Dystrophy: Paving the road to therapy March 17-19, 2023, Barcelona, Spain
From March 17 to March 19, 2023, more than 40 experts (clinicians, scientists and patients and their representatives) from 14 countries gathered onsite in Barcelona, Spain, and many more online (108 participants from 28 countries). The experts presented and discussed progress in the knowledge on natural history, pathophysiology, trial readiness and potential treatment strategies for patients with LAMA2-related muscular dystrophy (LAMA2-MD), the congenital form being known as merosin deficient congenital muscular dystrophy type 1A (MDC1A; OMIM #607855). (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 8, 2024 Category: Neurology Authors: Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, Isabelle van Beckhoven Source Type: research
Crossover randomized controlled trial of Bumetanide to rescue an attack of exercise induced hand weakness in Hypokalaemic Periodic Paralysis
Hypokalaemic periodic paralysis (HypoPP) is a neuromuscular disorder caused by mutations in the voltage-gated skeletal muscle channel genes CACNA1S and SCN4A. The genetic changes result in an aberrant inward leak current across the sarcolemma, which increases the susceptibility of the muscle membrane to sustained depolarisation at low serum potassium levels. Clinically this manifests as recurrent paralysis.[1] The only pharmacological option to abort acute symptoms in HypoPP is potassium supplementation. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 2, 2024 Category: Neurology Authors: Renata Siciliani Scalco, Jasper M Morrow, Andreea Manole, Iwona Skorupinska, Federico Ricciardi, Emma Matthews, Michael G Hanna, Doreen Fialho Source Type: research
ENMC Themed Call 2023-2024 Announcement
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 1, 2024 Category: Neurology Source Type: research
WMS 2024 Congress Flyer
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 1, 2024 Category: Neurology Source Type: research
WMS 2024 Congress information
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 1, 2024 Category: Neurology Source Type: research
WMS General Information
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Source: Neuromuscular Disorders - January 1, 2024 Category: Neurology Source Type: research
Editorial Board
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - January 1, 2024 Category: Neurology Source Type: research
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders
Rare diseases collectively affect 300 million people worldwide. More than 6,000 distinct disorders are described, mostly genetic, pediatric in onset and severely disabling or even life-threatening [1]. Commercial interest in drugs for rare disease has flourished with scientific advances and the orphan drug status legislation. This has rapidly expanded the field of orphan drug development. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 23, 2023 Category: Neurology Authors: Lizan Stinissen, Sietse Bouma, Johann Bohm, Jeno van Tienen, Holger Fischer, Zak Hughes, Anne Lennox, Erin Ward, Marie Wood, Reghan A. Foley, Wija Oortwijn, Heinz Jungbluth, Nicol C. Voermans Tags: Review Source Type: research
Commentary from the Editor
Despite the persistent threat of Covid-19 at a high level, the severity of infections has diminished. For many, life has returned to a semblance of normality, with other crises now taking center stage in daily news. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 21, 2023 Category: Neurology Authors: Anders Oldfors Tags: Editorial Source Type: research
Neutral Lipid Storage Disease with Myopathy: Clinicopathological and Genetic Features of Nine Iranian Patients
Neutral lipid storage disease with myopathy (NLSDM, OMIM#610717) is a rare genetic disorder caused by mutations in the Patatin-like phospholipase domain-containing-2 (PNPLA2) gene encoding adipose triglyceride lipase (ATGL) [1]. ATGL enzymes are involved in triglycerides hydrolysis in adipose tissue, and when PNPLA2 mutations impair their activity, lipid accumulates in most organs. While, NLSDM primarily affects skeletal and cardiac muscles, it can also affect other organs, such as the brain, liver, and pancreas [3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 21, 2023 Category: Neurology Authors: Hamed Shahriyari, Mahtab Ramezani, Yalda Nilipour, Ali Asghar Okhovat, Ariana Kariminejad, Leila Aghaghazvini, Farzad Fatehi, Shahriar Nafissi Tags: Research paper Source Type: research
Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults [1]. Its prevalence of one in every 2100 births determined from new born screening material in a cross-sectional cohort is much higher than the previously reported estimates of one in 8000, suggesting that it is likely underdiagnosed in practice [2,3]. This autosomal dominant inherited disease results from CTG repeat expansions in the 3 ′-untranslated region of the DMPK (dystrophia myotonica protein kinase) gene on chromosome 19 [4,5]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 20, 2023 Category: Neurology Authors: Sandra J.M. Maagdenberg, Sylvia Klinkenberg, J. Sophie van den Berg, Sandra Altena-Rensen, Desiree Vrijens, Etienne J.M. Janssen, Nicole Gierenz, Liesbeth L. de Wall, Hilde M.H. Braakman Source Type: research
A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy
Dystrophinopathies, caused by pathogenic DMD variants, include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, X-linked dilated cardiomyopathy, and female dystrophinopathy [1]. Genetic therapy is a promising treatment given the monogenetic nature of DMD, but it requires the precise identification of pathogenic variants in the DMD gene. As approximately 97 ∼99% of pathogenic DMD variants are in DMD exons and/or their flanking intronic regions, they can be detected by routine exome analysis of genomic DNA [2,3]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - December 19, 2023 Category: Neurology Authors: Zhiying Xie, Chengyue Sun, Chang Liu, Yanyu Lu, Bin Chen, Rui Wu, Yanru Liu, Ran Liu, Qing Peng, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Wei Zhang, Yun Yuan Tags: Case report Source Type: research
