Muscular Dystrophy | Diagnosis & Treatment

How is muscular dystrophy diagnosed?

The first step in diagnosing muscular dystrophy is a complete exam and medical history. Based on these findings, the clinician may order one of more of the following tests to help diagnose muscular dystrophy and to determine which type the child has.

  • blood tests to measure certain enzymes that may indicate muscle damage
  • muscle biopsy to check the muscle tissue for muscle disease
  • imaging tests, such as magnetic resonance imaging (MRI) or ultrasound to check muscle quality
  • neurological tests to rule out other conditions and to test coordination or reflexes
  • exercise tests to check muscle strength and check for certain chemicals in the body after exercise
  • genetic testing to look for mutations that could signal a specific type of muscular dystrophy

What are the treatments for muscular dystrophy?

There is no treatment that can stop the progression of muscular dystrophy. Instead, available treatments focus on easing symptoms. These can vary from patient to patient, depending on the type of muscular dystrophy a person has and how much it has progressed. These treatments may include:

  • physical therapy or occupational therapy to help keep muscles strong and flexible and help patients maintain skills
  • speech therapy to improve communication skills in those with muscle weakness in the face
  • respiratory therapy if the child has breathing problems
  • medications to help increase muscle strength and reduce some of the symptoms of muscular dystrophy, such as muscle spasms or infections
  • surgery is sometimes needed to help with the complications of muscular dystrophy, such as implanting a pacemaker for heart problems or surgery to remove cataracts

Expert care for muscular dystrophy

Many of the genes responsible for muscular dystrophies and other neuromuscular disorders were found right here at the Boston Children’s Neuromuscular Center. Today, the researchers who made these discoveries are continuing to learn more and are working to develop treatments.