Neuromuscular disease: 2023 update

Area of Science:

• Neurology
• Muscle Biology
• Genetics

Background:

• Neuromuscular diseases encompass a range of debilitating conditions affecting nerve and muscle function.
• Understanding disease mechanisms and developing effective treatments remain critical challenges in neurology.

Purpose of the Study:

• To review significant advancements in the field of neuromuscular diseases reported in 2022.
• To provide an overview of progress in fundamental biology, disease identification, etiology, diagnostics, and therapeutics.

Main Methods:

• Literature review of key publications and research findings from 2022 in the neuromuscular disease field.
• Synthesis of information across five overarching topics: fundamental biology, new diseases, etiology/pathogenesis, diagnostics, and therapeutics.

Main Results:

• Highlights ten major advances, including insights into neuromuscular complications of COVID-19.
• Discusses specific conditions such as DNAJB4-associated myopathy, NMNAT2-deficient hereditary axonal neuropathy, Guillain-Barré syndrome, sporadic inclusion body myositis, and amyotrophic lateral sclerosis.
• Covers advances in muscle regeneration, genetic testing for muscular dystrophies, and SARM1 inhibitors for Wallerian degeneration.

Conclusions:

• The year 2022 saw substantial progress across various facets of neuromuscular disease research.
• These advances offer new avenues for understanding, diagnosing, and treating a spectrum of neuromuscular disorders.
• Continued research is vital for translating these findings into clinical practice for improved patient outcomes.