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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.​