Neuromuscular Clinic and Muscular Dystrophy

Neuromuscular Disease

The term “neuromuscular disease” is used to describe diseases that involve the nerves and/or muscles outside of the brain and spinal cord. These nerves and muscles and their ability to communicate with one another allow us to move when we want to. In addition, some nerves not connected to muscles allow us to feel sensation.

Many neuromuscular diseases are inherited, and medical scientists are getting better at finding the particular genes that are responsible for each of these disorders.

The symptoms of neuromuscular diseases can include weakness, muscle shrinking, muscle twitching or rippling. While some of these diseases are life-threatening, many do not impact life expectancy and some are even treatable.

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

One group of neuromuscular disorders is muscular dystrophies. Although there are many other kinds of neuromuscular disorders, for historical reasons the neuromuscular clinic at Children’s is called the Muscular Dystrophy Clinic. At Children’s Hospital of Pittsburgh of UPMC, the Muscular Dystrophy 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 without cost to the patient.

Clinic services include diagnostic evaluation, periodic follow-up visits and social services. Summary reports are sent to the patient’s personal physician after the initial diagnostic evaluation and after each follow-up visit. The program director is available to consult with the patient’s personal physician on problems related to the child’s neuromuscular disease.

Top Updated 10/8/07