What are neuromuscular disorders?

Neuromuscular disorders are neurologic conditions that affect the peripheral nervous system, which includes the nerves, the muscles, and the space between the nerves and muscles known as the neuromuscular junction. This abnormal functioning of these structures can lead to muscle weakness, numbness, or nerve pain. There are several neuromuscular disorders known to date, but some of the more common ones include:

• Neuropathy: A general term that describes damage to the nerves, resulting weakness, numbness and/or pain in the hands and feet. Neuropathy can have many different causes, the most common of which is diabetes mellitus.

• Myasthenia Gravis: A condition that causes weakness as the communication between nerve cells and muscles breaks down. Common symptoms are weakness are the eyelids, double vision, speech and swallowing problems, breathing difficulty, and limb weakness.

• Guillan-Barre Syndrome: A rare condition that involves sudden progressive weakness of the body. This is related to the body’s immune system becoming over-reactive and attacking nerves outside of the brain and spinal cord (peripheral nerves).

• Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): An autoimmune condition that involves inflammation and the breakdown of myelin in nerve cells. In normal circumstance, myelin helps insulate the nerve cells and allow nerve impulses to travel quickly from one region to another. It is similar to Guillan-Barre Syndrome.

• Muscular Dystrophy: A condition caused by a genetic mutation with symptoms of progressive muscle wasting and weakness. There are many different types of muscular dystrophy. Muscular dystrophy is primarily diagnosed in males, although some females can exhibit mild symptoms.

• Amyotrophic Lateral Sclerosis (ALS): ALS, also termed “Lou Gehrig’s disease” is a disease that affects the nerves of the brain and spinal cord and leads to loss of voluntary muscle control, such as eating, talking, and breathing. ALS gets worse over time. The exact cause of the condition is unknown at this time.

Testing for Neuromuscular Disorders

There are many different tests that your doctor may order to help clarify your diagnosis. Your doctor may order the one or more of the following:

• Routine lab work

• Genetic test panels

• Skin biopsy

• Electromyography (EMG) and nerve conduction studies

• Imaging studies

• Lumbar puncture

• PT/OT evaluation

• Speech and swallowing evaluation

How are Neuromuscular Disorders Treated?

Treatment of neuromuscular disorders depends on which condition is diagnosed. Some conditions may be able to be cured, some may go into remission, and some may not be able to be cured. Treatment is aimed at symptom management.

The treatments listed below are not used for all neuromuscular diseases and are used only when appropriate. Depending on the cause, some common treatments used to manage neuromuscular disorders include:

• Corticosteroids

• Immunosuppressants

• Immunoglobulin infusions (IVIg)

• Monoclonal antibody drugs

• Plasmapheresis (removing harmful antibodies from the blood and replacing it with healthy components from donors)

• Other central nervous system agents

• Surgery (i.e. hymectomy)

• Speech therapy

• Physical therapy

• Occupational therapy