Neuromuscular Diseases

Neuromuscular [NOO-roh- MUH-skew-LAHR] diseases are a range of problems that can affect your muscular and nervous systems. Some of these disorders affect just the motor neurons [NOO-rahns] that control how you move, but others affect the entire nervous system. If your child is diagnosed with a neuromuscular disease, it may involve the muscles, nerves, or the places where those systems meet.

Neuromuscular diseases fit into the following groups:

• Diseases of the neuromuscular junction. For example, this group includes Gravis and Lambert-Eaton syndromes.
• Diseases of the peripheral [peh-RIH-fur-uhl] nerve. This group includes syndromes like Guillain-Barre syndrome.
• Metabolic [meh-tuh-BAL-ik] diseases of the muscle. Many of these diseases are brought on by deficiencies at the cellular level.
• Motor neuron diseases. This groups of disorders include Lou Gehrig’s disease and other spinal atrophies.
• Muscular dystrophies [DYS-truh-fees]. The most common dystrophies are Becker muscle dystrophy (BMD) and Duchenne muscular dystrophy (DMD), which most often begin in early childhood.
• Various muscular or neural myopathies [my-OP-uh-thee]. This group includes fibromyalgia [fahy-broh-mahy-AL-juh] and other inflammatory [in-fluh-MA-tawr-ee] diseases.

Any disorder or syndrome that affects the muscular system and the surrounding nerves can be referred to as a neuromuscular disease.

Because neuromuscular diseases make up such a wide range of disorders and syndromes, the symptoms your child has can vary a lot, and they might not have many symptoms or any at all. Symptoms can include the following:

• Numbness or general weakness
• Muscle weakness or fatigue
• Muscle twitches, cramps, or pain
• Muscle atrophy [AT-row-fee] (muscle loss)
• Paralysis [puh-RAL-uh-sis]
• Swallowing or chewing problems
• Skin rash
• Delayed development
• Painful or numb feet
• Double vision
• Droopy eyelids

Being specific about the area where your child feels the weakest or has the most difficulty will help their doctor narrow down the diagnosis. Many neuromuscular disorders affect only a certain part of the body, like the face, upper arms, pelvis, or feet.

If you notice any of the symptoms described, you should consult with your child’s doctor. Developmental delays can be the first clue that a neuromuscular disorder exists so pay special attention to delays in eating, walking, speaking, or other missed milestones.

Many neuromuscular diseases are inherited or passed down through the genes in families, but a few can also be caused by inflammatory reactions from immune system problems. If a neuromuscular disease has been diagnosed in your family, talk with your child’s doctor to determine if additional testing is needed for your child.

If your child’s doctor thinks your child has a neuromuscular disorder, the following tests may be used to diagnose the problem.

• EMG (electromyography) [ee-LECK-tro-my-AH-graf-ee]. Involves stimulating the muscle and nerve and testing the nerve signal that happens in response.
• Musculoskeletal and neurological [NOO-roh-LAH-jik-uhl] exam. This simple exam is often conducted as part of your child’s checkup but may be expanded to gather more information about the issue your child is having.
• Muscle or nerve biopsy [BY-op-see]. In this test, your doctor takes a very small piece of muscle or nerve from your child’s body and tests it.
• Genetic and/or blood tests. A sample of your child’s blood can be sent to a lab, where doctors can look for specific genetic (DNA) changes that cause certain neuromuscular diseases. CSF (Cerebrospinal [suh-REE-broh-SPY-nuhl] Fluid) testing. Testing of the spinal fluid may be required to diagnose disorders affecting the brain or spine.

The testing method required will depend on your child’s symptoms, age, and muscles affected, so talk with your child’s doctor to decide on next steps.

While there are no known cures for neuromuscular diseases, your child’s disorder or syndrome can be managed by a variety of approaches.

• Exercise and physical therapy. Some disorders can have more positive outcomes if your child is encouraged to exercise to prevent muscle loss. This should always be done under the guidance of a specialist.
• Medicine. Medicines can treat certain symptoms of muscle and nerve disease in your child as well as help with the pain of neuropathy and reduce inflammation [in-fluh-MAY-shun].
• Surgery. Some disorders may require surgery to improve your child’s outcomes and extend lifespan. The surgery recommended will depend on the disorder.

Many treatments that promote good health, exercise, and proper nutrition for your child have been shown to manage pain and extend lifespan for those with neuromuscular disease.

While neuromuscular diseases cannot be prevented, appropriate forms of exercise, pain management, good nutrition, and maintaining a healthy weight can all prolong lifespan and quality of life for your child.

Neuromuscular [NOO-roh- MUH-skew-LAHR] disease can affect your child’s muscles and the nearby nerves, causing muscle weakness and loss. These diseases can be genetic (inherited, or passed down in families) or caused by an inflammatory [in-flah-MA-tawr-ee] reaction to immune imbalances in your child’s body.