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Neuromuscular Disease

Description of Services

What is neuromuscular disease?

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. All types are treated through the Muscular Dystrophy Clinic at the Children’s Hospital Brain Care Institute. 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.

How are neuromuscular diseases developed?

There are many different types of pediatric neuromuscular diseases. 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 this class of diseases?

Patients with neuromuscular disease 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.

Meet our neuromuscular disease experts.

Referral Requirements

Referrals are required from primary care physicians or other Children’s Hospital specialty services. Referrals for patients enrolled in managed care insurance plans also may require authorization from the insurance provider and primary care physician. All necessary referral and authorization forms must be received before the patient’s visit. For accurate provider numbers or more information, please call the office number listed.

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Last Update
June 24, 2013
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