Neuromuscular disorders

Definition

Neuromuscular disorders are a group of diseases that affect the nerves that control voluntary muscles, and nerves that communicate sensory information back to the brain.

Examples of neuromuscular disorders are:

  • Amyotrophic Lateral Sclerosis (ALS)
  • Multiple Sclerosis
  • Muscular Dystrophy
  • Myopathy
  • Myositis
  • Peripheral neuropathy
  • Spinal muscular atrophy 
Cause

The nerves in the body send and receive electrical messages to and from the body in order to help control voluntary movement. This communication pathway breaks down when the nerves become unhealthy.

There are multiple factors that may lead to the nerve cells becoming unhealthy or cause them to die, such as genetics (inherited genes or spontaneous gene mutations) and immune system disorders. 

Symptoms

Neuromuscular disorders may present in varying degrees in different individuals, but common symptoms may include:

  • Muscle weakness, cramping, aches, twitches and pain
  • Muscle loss (atrophy)
  • Numbness or tingling
  • Difficulties in swallowing or breathing
  • Facial or eyelid dropping
  • Difficulties in balance
Diagnosis

The first steps to diagnosing neuromuscular disorders is to have a thorough medical and family history. The doctor will perform a physical exam that will include checking reflexes and muscle strength. Laboratory tests may be ordered, alongside imaging tests such as an MRI to check the brain and spinal cord.

Other tests such as EMG to check the electrical activity of the muscles, or a muscle biopsy to see muscle tissue changes may be required for certain cases. Genetic testing may also be used to check for gene mutations and family links. 

Treatment

There are no cures for neuromuscular disorders. Thus, treating the symptoms and delaying the progression of the disease are important in order to increase the quality of life of every patient. Medications alongside with rehabilitation services such as physiotherapy and occupational therapy will be used.

Research into neuromuscular disorders involving gene therapies and new lines of medications are ongoing worldwide with the hope of a cure.