What is neuromuscular disease (NMD)?

Neuromuscular disease (NMD) is a broad term that encompasses many diseases and ailments that impair muscle function, either directly via intrinsic muscle pathology, or indirectly via nerve pathology.

Some NMD patients are characterized by progressive muscular impairment leading to:

  • loss of mobility
  • being wheelchair-bound
  • swallowing difficulties
  • respiratory muscle weakness
  • death from respiratory failure.

Neuromuscular disorders can be divided into rapidly progressive and slowly progressive:

  • Rapidly progressive disorders are characterized by muscle impairment that worsens over months, and results in death within a few years (eg, amyotrophic lateral sclerosis (ALS) and Duchenne muscular dystrophy (DMD) in teenagers).
  • Variable or slowly progressive disorders are characterized by muscle impairment that worsens over years and only mildly reduces life expectancy (eg, limb girdle, facioscapulohumeral and myotonic muscular dystrophy).

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