Neuromuscular Disorders

Neuromuscular disorders involve the ways in which muscles and nerves communicate. These conditions often involve disruptions to the neuromuscular junction (the spot where signals travel between nerves and muscles), problems with the anterior horn cells in the spinal cord (the motor neurons) or problems with the muscles and nerves themselves.

Many neuromuscular disorders are genetic (passed from parent to child) while others are caused by autoimmune conditions (when the body’s immune system attacks itself) such as myasthenia gravis and Guillain-Barre syndrome.

Types of neuromuscular disorders include:

Neuropathies
- Hereditary neuropathy
- Other motor and sensory neuropathies
Myopathies
- Congenital myopathy
- Inflammatory myopathies
Muscular dystrophies
- Congenital
- Duchenne
- Facioscapulohumeral dystrophy (FSHD)
Anterior horn cell diseases
- Charcot-Marie-Tooth (CMT)
- Spinal muscular atrophy (SMA)
Disorders of the neuromuscular junction
- Myasthenia gravis

When muscles cannot receive signals from the nerves, they do not work properly and become weak. This muscle weakness can cause many different symptoms. Symptoms of neuromuscular disorders include:

Muscle atrophy
Nerve pain (burning or stinging)
Numbness
Difficulty swallowing
Trouble breathing
Weakened heart muscles

If your child shows signs of a neuromuscular disorder, getting an accurate and specific diagnosis makes planning for future care more successful. Some neuromuscular conditions do not progress or change over time while others can worsen and cause conditions such as cardiomyopathy and breathing problems associated with some muscular dystrophies.

Diagnosis of Neuromuscular Disorders

Doctors at Riley at IU Health perform the following exams and tests to diagnose neuromuscular disorders:

Clinical exam. The doctor will examine your child’s body and discuss his or her medical history and progression of symptoms.
Blood tests. Advances in molecular genetics allow for blood tests that check for certain chemicals and proteins in the blood that indicate a neurogenetic disorder. These tests often take the place of more invasive tests such as lumbar punctures and biopsies.
Pediatric genetic counseling. A study of your child’s DNA can reveal changes or abnormalities in genes and chromosomes that cause neuromuscular conditions. Our genetic counselor is trained to explain these results to you in an understandable manner.
Electromyography (EMG). This test records the electrical activity in the skeletal muscles and looks for abnormalities in nerve-to-muscle signals.
Nerve conduction study. This test occurs as part of the EMG and checks the function of the motor and sensory nerves.
Muscle biopsy. The doctor takes a small sample of muscle tissue to examine under a microscope. Studying the makeup and structure of the muscle cells can help pinpoint a diagnosis.

Treatments

At Riley at IU Health, a team of neurologists and other pediatric specialists—including experts in genetics, pulmonology, heart care, physical and occupational therapy, physical medicine and rehabilitation, orthopedics and nutrition—treat neuromuscular disorders.

Treatments for neuromuscular disorders are specific to each patient’s symptoms but often focus on reducing your child's symptoms and improving strength and mobility. Treatments include:

Physical and occupational therapy. Therapists will work with your child to improve muscle strength and function. Specific therapies depend on your child’s condition, but activities are designed to help him or her perform more daily tasks and remain active.
Medical monitoring. Neuromuscular disorders can lead to other conditions such as scoliosis, heart weakness, trouble breathing and difficulty swallowing. Your child’s doctor will work with a team of pediatric specialists to monitor your child frequently, checking for any signs of these secondary conditions.
Steroid treatments. Your child’s doctor may prescribe prednisone or other steroids to slow down muscle deterioration in some cases of muscular dystrophy.
Physical medicine and rehabilitation. Your child’s movements and even breathing may improve by using certain types of medical equipment or braces. His or her doctor and other specialists, such as physiatrists or orthopedists, will talk with you about the best options for your child.
Clinical trials. Your child may be a candidate for a clinical trial. His or her doctor will discuss the different options and benefits of taking part in a study with you.

While there are no cures for neuromuscular disorders, there is hope, thanks to research studies now underway. This research is leading to many treatment advances, which is improving care.

Key Points to Remember

Neuromuscular disorders involve the ways in which muscles and nerves communicate. Many neuromuscular disorders are genetic while others are caused by autoimmune conditions.
The most common symptom of neuromuscular disorders is muscle weakness.
Neuromuscular disorders can lead to other conditions such as scoliosis, heart weakness, trouble breathing and difficulty swallowing.
Treatments focus on reducing your child's symptoms and improving strength and mobility.

Support Services & Resources

View these links to discover support groups and more resources for neuromuscular conditions.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

ClinicalTrials.gov

This website from the National Institutes of Health provides information about clinical trials for neuromuscular disorders. Talk to your child’s doctor about participating in specific studies.

Muscular Dystrophy Association (MDA)

MDA provides families with information and resources to manage life with a neuromuscular disease.

Parent Project Muscular Dystrophy

Parent Project MD accelerates research, raises voices to impact policy, demands optimal care for every single family, and strives to ensure access to approved therapies.

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.

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