Neuromuscular diseases refer to a group of conditions that affect the nerves that communicate signals between the brain and the muscles. These diseases can result from a genetic disorder, an acquired disorder such as injury or infection, or a metabolic imbalance. Symptoms vary depending on the specific condition, but may include muscle weakness, pain, stiffness, spasms, fatigue, numbness, twitching or cramping. Neuromuscular diseases can have a dramatic impact on quality of life, and can cause disability or even loss of life. The most common neuromuscular diseases are the muscular dystrophies and myasthenia gravis. Muscular dystrophies is an umbrella term for a group of inherited disorders characterized by weakening and wasting of muscle tissue. Myasthenia gravis is an autoimmune disorder that causes weakness in the voluntary muscles, typically the arms and legs. Other neuromuscular diseases include ALS, Charcot-Marie-Tooth disease, peripheral neuropathy and many others. Diagnosing neuromuscular disease may involve imaging scans, nerve and muscle tests, electromyography and genetic tests. Treatment depends on the specific disorder and may include medications, physical therapy and surgery. For some diseases the only treatment available is supportive care, such as physical therapy, orthotics and assistive devices. When living with a neuromuscular disease, lifestyle modifications can help minimize symptoms, such as a balanced diet that promotes muscle strength and endurance, a regular exercise routine to maintain muscle function, and adequate rest to fight fatigue.
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Salvador Ventura, Autonomous University of Barcelona, Spain
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Alan C Jackson, University of Calgary, Canada
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Bernd Blobel, University of Regensburg, Germany
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Sid O Bryant, Texas College of Osteopathic Medicine and University of North Texas Health Science Center Fort Worth, United States