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Neuromuscular Diseases - Types, Symptoms and Treatment

​​There are many types of neuromuscular diseases, such as muscular dystrophy or cerebral palsy. These diseases affect lower motor neurons, which are responsible for transmitting signals from the brain to a muscle to perform a movement.

Other types of neuromuscular diseases include:

  • Spinal muscular atrophy
  • Charcot Marie Tooth (hereditary motor sensory neuropathy)
  • Acquired neuropathies
  • Congenital myopathies
  • Metabolic myopathies
  • Muscular dystrophies
  • Myasthenia gravis and congenital myasthenic syndromes
  • Myelodysplasia, including spina bifida and myelomeningocele
  • Arthrogryposis
  • Prader-Willi

Neuromuscular conditions can be present at birth or can develop in adolescence or adulthood. These conditions require special care and attention once they're diagnosed. Patients will continue to receive care throughout their life, as with most neuromuscular diseases the prevention of possible complications is paramount. Some neuromuscular diseases cannot be cured; however, proper care can lessen the intensity of the symptoms and even slow the progression of the disease.

Causes of Neuromuscular Disease

Some neuromuscular conditions are the result of genetics, while others may be an autoimmune disorder where the body's immune system attacks itself. Some can be caused by injuries, including injuries at birth. Evaluation is only necessary when symptoms are present.

Symptoms of Neuromuscular Disease

There are several warning signs of neuromuscular disease. If there's a family history of neuromuscular disease, it's a good idea to have an evaluation if you observe any of the following symptoms:

  • Decreased muscle tone – muscles feel soft and doughy
  • Delayed milestones like holding the head up, walking, rolling over, sitting up
  • Muscle weakness, cramps, twitching
  • Loss or thinning of muscle over time
  • Walking with an abnormal gait, such as walking on tiptoes
  • Droopy eyelids
  • Trouble swallowing
  • Loss of reflexes
  • Double vision
  • Trouble breathing
  • Tingling or numbness​

Diagnosing Neuromuscular Disease

There are a variety of tests that may need to be performed. A Boys Town board certified Neuromuscular Specialist will lead the care team in the diagnosis, which may involve:

  • Blood tests
  • Genetic testing
  • A muscle or nerve biopsy
  • Imaging tests such as: EMG, CT, EEG, MRI, PET scan, MRA scan and others

Treatment of Neuromuscular Disease

For some selected neuromuscular diseases, treatment can include replacing the defective gene, helping the body produce more of a necessary protein, decreasing inflammation across the body or supplementing part of the energy chain needed for healthy muscle activity. On the other hand, for some neuromuscular diseases which have no cure, treatment focuses on treating symptoms, maintaining or improving quality of life and delaying progression of the disease. Research is being done on new medications and different genetic therapies, but for now treatment options include medication, physical therapy, occupational therapy and surgery, if needed.

If your child is diagnosed with a neuromuscular disease, the Boys Town care team will coordinate an effective care plan, which can include:

  • Care from a neurologist and other specialists as needed, such as a cardiologist or a pulmonologist
  • Physical therapy
  • Occupational therapy (help with doing daily activities)
  • Speech therapy
  • Nutritionists and social workers

Health;Illness Pediatric Neurology