Neuromuscular Disease

Neuromuscular diseases (also referred to as muscular dystrophies) refer to a group of inherited muscular disorders that are caused by genetic mutations leading to progressive deterioration of skeletal muscle tissues. The effects of the disease can vary by individual, from mild muscle weakness to the more severe forms of the disease that lead to muscle paralysis, and even death. Some of the common neuromuscular diseases are amyotrophic lateral sclerosis (ALS), muscular dystrophy (MD), myasthenia gravis (MG), and congenital myopathies. Neuromuscular diseases can be caused by mutations in genes that are responsible for the production of proteins known as dystrophin, myostatin, and actin. These proteins are critical for normal muscle function and when they become defective, muscle cells become fragile leading to their progressive deterioration and subsequent loss of muscle mass. The symptoms of neuromuscular diseases can be very severe and debilitating. They can include weakness of the limbs, difficulty with coordination and walking, muscle paralysis, loss of muscle mass, and even respiratory failure in cases of the more serious forms of the disease. Diagnosis is made through physical examinations and specialized tests that measure muscle strength and function, as well as genetic tests to identify genetic mutations. Treatment for neuromuscular diseases is limited and mostly focused on managing symptoms while slowing the progression of the disease. Treatment plans can include physical and/or occupational therapy, medications, the use of braces and orthotic devices, and even surgery. Additionally, the emotional and cognitive effects of the disease should also be considered when creating an individualized treatment plan. Living with a neuromuscular disease can be a difficult challenge, but with proper management of symptoms, and with the care of a support system, sufferers can lead fulfilling lives and remain active participants in their communities. With advancing research, researchers in the field are hopeful that better treatments, and even cures, will be made available in the future.