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Neuromuscular Diseases

What Are Neuromuscular Diseases?

Neuromuscular diseases are a group of conditions, including amyotrophic lateral sclerosis (ALS), Myasthenia gravis and muscular dystrophy, in which certain nerve cells become diseased or die, causing muscle weakness and wasting, as well as other symptoms. Some conditions also affect the heart and lungs. 

Most neuromuscular diseases are genetic. Carriers can have a child with neuromuscular disease without having any symptoms themselves. Neuromuscular diseases are not curable, and so treatment involves managing symptoms and providing therapies to improve the patient’s lifespan and quality of life. 

Symptoms

The most common symptom of neuromuscular disease is muscle weakness. Other symptoms depend on the specific condition:

  • ALS This disease is typically diagnosed in people age 40 to 60 who are having problems running, walking, writing or speaking. The disease progresses to the point that the patient cannot move and eventually cannot breathe. Most people with ALS die of respiratory failure.
  • Myasthenia gravis — This autoimmune disease causes weakness in the voluntary muscles. The symptoms tend to worsen with activity and improve with rest.
  • Muscular dystrophy — There are more than 30 types of muscular dystrophy, which cause the muscles to progressively weaken, often leading to the inability to walk. Some forms of muscular dystrophy can affect the heart, lungs and other organs.

Treatment Options

Neuromuscular disease is not curable. Treatment depends on the specific disease:

  • ALS — Treatment generally involves support by specialists in rehabilitation, nutrition and lung care. A breathing machine can prolong the life of someone with ALS.
  • Myasthenia gravis — Symptoms can significantly improve or even disappear (usually temporarily) with treatment, which might include medicine, blood transfusions or surgical removal of the thymus gland.
  • Muscular dystrophy — Treatments and therapies are aimed at giving the patient some independence while preventing complications from muscular dystrophy’s progressive symptoms, which affect mobility, strength, and heart and lung function.

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