About neuromuscular diseases

Neuromuscular diseases are disorders that affect the muscles and the peripheral nervous system. The peripheral nervous system includes the nerve-muscle (neuromuscular) junction, peripheral nerves in the limbs, and the motor-nerve cells in the spinal cord.

Patients with neuromuscular diseases can have weakness and loss of muscle bulk. In the most severe types of neuromuscular disease, this can cause early death due to failure of the breathing muscles or the heart. Other symptoms may include muscle twitching, cramping, numbness, and tingling. Problems with the nerve-muscle junction can also cause droopy eyelids, double vision, and weakness that worsens with activity. Some neuromuscular disorders can also cause difficulty with swallowing and sometimes with breathing.

Many neuromuscular diseases are genetic, which means they are caused by a mutation in a person's genes. This mutation can run in families (can be inherited by children from their parents), although sometimes it arises by chance.

Finding out the precise mutation that causes an inherited neuromuscular disease can help doctors to say how the disease will progress and what symptoms will occur, and to advise patients about the best treatments and care. Many potential future treatments for these diseases attempt to "correct" the mutation, and for this reason too it's important that patients have a precise genetic diagnosis wherever possible.