Neuromuscular Disease in Children

What Are Neuromuscular Diseases?

Neuromuscular diseases affect the lower motor neurons of the nervous system, which may include the muscles, nerves, or the junction between muscles and nerves (known as a neuromuscular junction).

A familiar group of neuromuscular disorders is known as muscular dystrophies, but there are many other kinds of neuromuscular disorders. The Muscular Dystrophy Clinic at the Children’s Hospital Brain Care Institute treats all types of neuromuscular disorders. This clinic provides a multidisciplinary setting for the diagnostic evaluation and follow-up care of infants and children with known or suspected neuromuscular disorders. The Muscular Dystrophy Association supports the program, and services are provided to patients without cost.

What Causes Neuromuscular Disease?

There are many different of pediatric neuromuscular disease types. These may include inherited neuropathies, such as Charcot-Marie-Tooth (CMT) disease, and muscular dystrophies such as Duchenne, congenital myasthenic syndromes, and congenital myopathies.

Since the mid-1980s, science has made many breakthroughs in understanding the genetic causes of neuromuscular diseases, as well as their inheritance patterns. Through genetic testing and counseling, patients and their families can better understand how disorders are inherited and the roles that genes play in certain diseases.

Some neuromuscular diseases are caused by an immune imbalance. They may have markers in the blood that can be tested, or they may require other tests, such as an electromyogram (EMG), to confirm the diagnosis.

What Are the Symptoms of Neuromuscular Disease?

Children with neuromuscular disease symptoms may have:

• Low muscle tone (hypotonia)
• Delayed motor milestones like delayed walking or abnormal gait
• Muscle weakness, atrophy, twitching, or rippling

Although some of these symptoms may be due to life-threatening diseases, others do not affect life expectancy and may be treatable.

Find out how we diagnose neuromuscular diseases in children at UPMC Children’s Hospital of Pittsburgh.

Childhood Neuromuscular Disease Research and Clinical Studies

Children’s Hospital’s Brain Care Institute is at the frontier of medical research and clinical studies. The Division of Child Neurology receives more than $1 million in federal corporate and foundation research funding each year. Research projects and clinical trials from UPMC Children's Hospital's neuromuscular specialists include:

• A clinical evaluator reliability study at UPMC Children’s
• A longitudinal study of the relationship between impairment, activity limitation, participation, and quality of life in people with confirmed Duchenne muscular dystrophy
• A clinical trial of coenzyme Q10 and lisinopril in muscular dystrophies
• Cardiac outcomes measures in children with muscular dystrophy

Referral Requirements

Referrals are required from primary care physicians or other Children's Hospital specialty services.