Neuromuscular diseases are rare acquired or inherited (genetic) conditions that affect some part of the neuromuscular system:

• the muscles
• the peripheral motor nerves (in arms, legs, neck and face)
• the neuromuscular junction where the nerves and muscles meet
• the muscle-controlling nerve cells (motor neurons) in the spinal cord

More than a million people in the United States are affected by some form of neuromuscular disease, and about 40 percent of them are under age 18.

All neuromuscular diseases are progressive in nature, and all result in muscle weakness and fatigue. Some diseases are present at birth, some manifest in childhood, and others have an adult onset. The disease may be passed down through family genetic lines, and in some cases the student may have an affected sibling, parent or other relative. At other times there isn’t a family history and the disease is the result of a spontaneous genetic mutation, an abnormal immune response or an unknown cause.

Life expectancy varies by disease and severity, from very short to normal length. Heart and respiratory problems, which are secondary effects of muscle deterioration, often are the cause of death.

Although muscle wasting isn’t painful, the resultant weakness can cause cramping, stiffness, joint deformities, chronic aches and pain, and sometimes the tightening and freezing of joints (contractures).
In almost everyone with a neuromuscular disease, bladder and bowel control are normal, although students may need help in the bathroom as their physical abilities weaken. Sexual functioning and skin sensation usually are normal.

Strengthening exercises don’t prevent muscle decline in neuromuscular diseases, and in some cases can further damage fragile muscle cells if done too vigorously. Moderate and light exercise or standing exercises, undertaken under the guidance of a physical therapist (PT) or doctor, may help maintain muscle tone and flexibility, as well as combat obesity and bone thinning. Be sure a doctor or PT has approved your student’s exercise plan.

For information about a specific neuromuscular disease, see “Neuromuscular Disease Descriptions.”