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1 results

  • Chapter 1 - Neuromuscular Diseases: Anterior Horn Cell Disorders, Peripheral Neuropathies, Neuromuscular Junction Disorders, Myopathies

  • from Part I - Evaluation and Treatment of Patients with a Neuromuscular Disorder
  • Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
  • Book:
    Neuromuscular Disease
    Published online:
    29 November 2024
    Print publication:
    19 December 2024, pp 1-4

  • Summary

    Currently, there is a rapid, ongoing increase in our understanding of genetic neuromuscular disorders at the molecular level: many causative genes have been found, giving hope for targeted genetic treatments, already proven effective in some diseases. In immune-mediated neuromuscular disorders, pathogenetic mechanisms are better understood, and this enables the development of more precise immunotherapies. Increased knowledge has led to a refinement of classifications and has added numerous subtypes to the already hundreds of possible neuromuscular diagnoses. Patients can only benefit from future targeted therapies if an accurate diagnosis is made. Moreover, a diagnosis needs not only to be precise; the diagnostic trajectory needs to be swift, as current and future treatments will be aimed at the prevention or the restriction of irreversible damage.

    The best way to diagnose a neuromuscular disease at this point is probably to recognize the phenotypical pattern, to know its differential diagnosis, and to proceed from there.