Neuromuscular Disorders
Neuromuscular disorders include a wide range of conditions, symptoms and severity levels. Diagnosis, treatment and management of these disorders takes a comprehensive, multi-disciplinary approach and support for caretakers and families. Our Neuroscience Center is committed to providing the expertise, treatment options and services you and your family need.
Your team may include specialists in neurology, neurosurgery, physiatry and other disciplines, as well as professionals in physical therapy, social work and other services you may need. Your team will work together and with you to ensure your treatment and management plan meets your needs and that your preferences are respected.
What are neuromuscular disorders?
These disorders affect the nerves that control your voluntary muscles — the muscles that you can control. When signals from these nerves are disrupted, you may lose some or all of your control of your arms, legs or other parts of your body. Muscle may waste away, causing weakness, pain and other symptoms. Some disorders can affect your heart muscle and the muscles that control breathing.
These disorders affect the nerves that control your voluntary muscles — the muscles that you can control. When signals from these nerves are disrupted, you may lose some or all of your control of your arms, legs or other parts of your body. Muscle may waste away, causing weakness, pain and other symptoms. Some disorders can affect your heart muscle and the muscles that control breathing.
Examples of neuromuscular disorders include:
- Amyotrophic lateral sclerosis (ALS). Also called Lou Gehrig’s disease, ALS affects the neurons — the nerve cells that control your voluntary muscles. Eventually, it affects the muscles that control breathing. Most people with ALS live less than five years after diagnosis, but some have lived as long as 20 years. In rare cases, ALS symptoms may stop getting worse or even improve. There is currently no cure for ALS, but treatment with a drug called riluzole can sometimes lower the disease’s progress. Medicines, therapy and special equipment can help maintain independence for as long as possible.
- Muscular dystrophy (MD). MD includes more than 30 diseases that cause weakness and degeneration of the muscles that control movement. Some forms are more severe than others, with symptoms ranging from mild to disabling or even fatal. Some of the diseases appear in early childhood, while others show up later in life. Early intervention can help improve quality of life and may help slow the disease’s progression.
- Myasthenia gravis. This disease causes weakness in the voluntary muscles. It occurs when communication between the nerve and muscle is interrupted at the place where nerve cells connect with the muscles they control. Antibodies from your body’s immune system mistakenly attack the receptors for a substance called acetylcholine released by the nerve endings. This prevents your muscle from contracting. Because the disease is caused by your body’s own immune system, it is considered an autoimmune disease. Most people with myasthenia gravis have a normal life expectancy.
- Spinal muscular atrophy. This genetic disease causes weakness and wasting away of muscles and problems controlling muscle movement. It results from a loss of certain nerve cells in the spinal cord and brain stem. It appears in infancy or childhood. The most serious form is fatal. Other forms can cause disability and may shorten life expectancy.
How are neuromuscular disorders diagnosed?
Our team will talk to you about your symptoms and your family and medical history. We may perform a number of tests, which may include:
- Muscle strength tests. We may ask you to move in a certain way or to move part of your body against a resistive force. For instance, we may ask you to grip a device to check your hand strength.
- Muscle biopsy. We’ll take a small sample using either a needle or small incision. The sample will be examined under a microscope to see if certain muscle proteins are lacking.
- Electromyography (EMG). This test records the electrical activity of muscles. It can help determine whether a problem is in the muscle or caused by a nerve disorder.
- Nerve conduction velocity (NCV) test. Also known as a nerve conduction study or NCS, this test uses electrodes to determine the speed of nerve signals.
- Genetic testing. These tests can identify mutations, or changes that affect function, in genes. Genetic testing can help determine your chances of having a genetic condition, developing symptoms or passing on a disorder to your children.
How are neuromuscular disorders treated?
Treatment depends on your specific condition, needs and other factors. Treatment options might include:
- Oral or intravenous (IV) medicines. Anticonvulsants, immunosuppressive drugs, antidepressants and other medicines might help manage symptoms or slow progression.
- Some disorders might require surgery to treat complications or symptoms.
- Physical therapy, ophthalmology or other services. Different disorders can affect your body in different ways, so many services and specialties might be involved in your care.
- Patient and family education and counseling. You and your family may need support and guidance to help you cope with decisions and challenges you may be facing.
Helpful resources
When researching neurological or neuromuscular conditions in children, make sure your sources are reliable. Here are some good places to start:
- Medline Plus from the National Institutes of Health and the National Library of Medicine:
- National Institute of Neurological Disorders and Stroke
- Muscular Dystrophy Association (MDA)