Introduction to General Neuromuscular Disorders
What is a neuromuscular disorder?
A neuromuscular disorder is a lower motor neuron lesion, affecting any portion of the neural pathway commencing at the anterior horn cells in the spine and ending at a motor end plate and the muscle. A neuromuscular disorder is a rare acquired or inherited condition that affects the structure or function of any portion of this lower motor neuron including muscles, motor neurons, peripheral nerves or the neuromuscular junction.
POD-NMD covers topics important to therapy management (physiotherapy and occupational therapy) for the more common forms of inherited neuromuscular disorders.
Diseases of the muscle
Diseases of the muscle, dystrophinopathies, include Duchenne muscular dystrophy (DMD) and its milder phenotype, Becker muscular dystrophy (BMD), as well as limb girdle muscular dystrophies (LGMD). The most common anterior horn cell disease is spinal muscular atrophy (SMA) however, it is well-recognised that it is a more complex disease and other systems are affected. Diseases that affect the peripheral nerves include inherited motor sensory neuropathy or Charcot-Marie Tooth (CMT). Diseases that impact the neuromuscular junction include myasthenic conditions such as congenital myasthenia syndrome (CMS).
There are over 400 different types of neuromuscular disorders caused by over 1,000 different genetic mutations. There are no known cures for any neuromuscular disorder, although there are treatments now available and many therapeutic drugs in development.
For a physiotherapist, understanding the pathology of neuromuscular diseases can help explain the symptoms and difficulties experienced by people living with NMD.