Muscular Dystrophy

What Is Muscular Dystrophy? 

Muscular dystrophy is a broad group of diseases that cause muscle weakness that gets worse over time. There are different types of muscular dystrophy, but all of them are hereditary.

Some of the different types of muscular dystrophy are Duchenne, Becker, myotonic, limb-girdle, Emery-Dreifuss and congenital.

Signs & Symptoms

The main symptom in muscular dystrophy is muscle weakness that gets worse over time. Muscle weakness may cause frequent falls, trouble running and jumping, trouble getting from a sitting to standing position, muscle pain and stiffness.

People with muscular dystrophy may also have learning disabilities.

There may be other symptoms that vary based on the type of muscular dystrophy.

Causes

The cause of all types of muscular dystrophy is abnormal changes in the genetic material. There are a variety of genes responsible for the different types of muscular dystrophy. For example, changes in the dystrophin gene are responsible for Duchenne and Becker muscular dystrophy.

Diagnosis

The diagnosis of muscular dystrophy is based on taking a careful history and performing a physical exam. Further testing may be needed based on the type of muscular dystrophy suspected.  These tests may include:

  • Genetic testing
  • Blood tests
  • Electromyography – a test that records muscle activity
  • Biopsy of the muscle – where a small piece of muscle tissue is removed and looked at under a microscope 

Tests to check the heart, lungs, hormonal function, spine, and other organ systems will likely be done as well.

Treatment

It is important to work with a team of specialists when developing the treatment plan for someone with muscular dystrophy. The Neuromuscular Cardiomyopathy Program at Cincinnati Children’s is very experienced in managing cardiac disease in all types of muscular dystrophy.

Our clinic has all the needed specialists in one physical space, allowing for a more patient-friendly experience and improved communication. The entire care team works together to create the best therapy plan.  

Our center offers cutting-edge therapies for all types of muscular dystrophy, including approved and investigational treatment strategies. Our center is a care destination for children and adults with neuromuscular disorders.

Muscular Dystrophy and Heart-Related Issues

All muscular dystrophy patients are potentially at risk for developing cardiomyopathy or heart muscle disease. This can result in heart failure and progressive symptoms such as swelling or shortness of breath. In addition, the electrical system of the heart can be abnormal in some patients.  

Based on the cardiac findings, therapy would be started to treat the cardiac disease and associated symptoms. This typically would include oral medications.

In advanced cases, consideration of a pacemaker and/or an implantable cardioverter defibrillator (ICD) may be discussed.

For patients with advanced heart failure, we offer a comprehensive support program that includes left ventricular assist devices (LVADs) and total artificial heart (TAH) technology.

Support

The diagnosis of muscular dystrophy can be overwhelming for families and patients. There are a number of resources that can provide additional information, education and support groups. A few of them are:

Last Updated 09/2018