Neuromuscular disease: 2022 update

Area of Science:

• Neurology
• Genetics
• Immunology

Background:

• Neuromuscular diseases encompass a wide range of debilitating conditions affecting nerve and muscle function.
• Understanding the underlying biology and pathogenesis is crucial for developing effective treatments.

Purpose of the Study:

• To provide a comprehensive overview of significant advancements in neuromuscular disease research reported in 2021.
• To highlight progress across fundamental biology, disease identification, etiology, diagnostics, and therapeutics.

Main Methods:

• Literature review of key publications and research findings from 2021 in the neuromuscular disease field.
• Categorization of advances into overarching themes including biology, new diseases, pathogenesis, diagnostics, and therapies.

Main Results:

• Detailed discussion of ten major advances, including neuromuscular complications of COVID-19, MLIP and VWA1-related myopathies, Leber's hereditary optic neuropathy, and tRNA synthetase-associated Charcot-Marie-Tooth disease.
• Exploration of autophagic defects in myopathies, systemic sclerosis-associated myopathy, humoral immune endoneurial microvasculopathy, and late-onset Pompe disease.
• Inclusion of insights into muscle/nerve regeneration and gene expression profiling for immune-mediated myopathies.

Conclusions:

• The year 2021 saw substantial progress in understanding and managing diverse neuromuscular disorders.
• These advances offer new hope for improved diagnostics and therapeutic strategies for patients with these conditions.