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New Frontiers in Diagnosis, Treatment and Management of Neuromuscular Disorders

Guest edited by Dr Bradley Turner

© Dr Bradley Turner

Neuromuscular disorders (NMDs) comprise a large diverse group of diseases that are characterised by impaired muscle functioning and progressive physical disability, as a result of primary pathologies of voluntary muscles, neuromuscular junctions, peripheral axons and/or the central nervous system.

Motor neuron diseases (MNDs) are a subset of NMDs caused by upper and/or lower motor neuron degeneration. They include amyotrophic lateral sclerosis, spinal muscular atrophy (SMA), hereditary spastic paraplegia and spinal bulbar muscular atrophy. Although they have low incidence and prevalence, they can cause severe and rapid disability with a high fatality rate and therefore burden on the health care system.

Another group of NMDs, muscular dystrophies, are caused by primary defects in skeletal muscle. Duchenne muscular dystrophy (DMD) is the leading form, causing progressive disability in young males.

Other neurological disorders include peripheral neuropathies, for example, Charcot-Marie-Tooth disease. These, while being less severe than motor neuron disease, affect many more individuals and represent a significant clinical burden.

Although there are currently no available cures, a new era has dawned for DMD and SMA with the recent clinical approval of gene therapies. In addition, much progress has been made in recent years to understand the pathogenesis of NMDs.

We are seeking submissions of original research and front matter articles on significant insights into pathogenesis of and treatments for inherited and sporadic forms of DMDs, MNDs, and peripheral neuropathies. We are particularly interested in manuscripts focusing on:

  • Translational models of pathogenesis and therapy
  • Clinical trials
  • Diagnosis and screening programmes
  • Clinical care and management

We would welcome direct submission of original research that meets the above criteria – please submit directly to BMC Medicine stating in your cover letter that you are targeting the collection. Alternatively, you can email your pre-submission queries to Collection published with initial articles: 26th October 2020. The collection will remain open and accept submissions until October 2021.

Guest Editors provided guidance on the scope of this collection and advised on commissioned content. However, they are not involved in editorial decision-making on papers submitted to this collection. All final editorial decisions are with the Editor-in-Chief, Dr. Lin Lee.​

  1. There is considerable variability in disease progression for patients with amyotrophic lateral sclerosis (ALS) including the age of disease onset, site of disease onset, and survival time. There is growing evi...

    Authors: Frances Theunissen, Loren L. Flynn, Ryan S. Anderton and P. Anthony Akkari
    Citation: BMC Medicine 2022 20:11
  2. A connection between amyotrophic lateral sclerosis (ALS) and altered gut microbiota composition has previously been reported in animal models. This work is the first prospective longitudinal study addressing t...

    Authors: Diana Di Gioia, Nicole Bozzi Cionci, Loredana Baffoni, Angela Amoruso, Marco Pane, Luca Mogna, Francesca Gaggìa, Maria Ausiliatrice Lucenti, Enrica Bersano, Roberto Cantello, Fabiola De Marchi and Letizia Mazzini
    Citation: BMC Medicine 2020 18:153
  3. Dystroglycanopathies are a group of inherited disorders characterized by vast clinical and genetic heterogeneity and caused by abnormal functioning of the ECM receptor dystroglycan (Dg). Remarkably, among many...

    Authors: Andriy S. Yatsenko, Mariya M. Kucherenko, Yuanbin Xie, Dina Aweida, Henning Urlaub, Renate J. Scheibe, Shenhav Cohen and Halyna R. Shcherbata
    Citation: BMC Medicine 2020 18:8
  4. Associations between type 2 diabetes (T2D) and amyotrophic lateral sclerosis (ALS) were discovered in observational studies in both European and East Asian populations. However, whether such associations are c...

    Authors: Ping Zeng, Ting Wang, Junnian Zheng and Xiang Zhou
    Citation: BMC Medicine 2019 17:225
  5. Brain innate immunity is vital for maintaining normal brain functions. Immune homeostatic imbalances play pivotal roles in the pathogenesis of neurological diseases including Parkinson’s disease (PD). However,...

    Authors: Shu-zhen Zhang, Qin-qin Wang, Qiao-qiao Yang, Huan-yu Gu, Yan-qing Yin, Yan-dong Li, Jin-can Hou, Rong Chen, Qing-qing Sun, Ying-feng Sun, Gang Hu and Jia-wei Zhou
    Citation: BMC Medicine 2019 17:204
  6. Niemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes. We sought to develop new therape...

    Authors: Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman…
    Citation: BMC Medicine 2019 17:200