Skip to content

Children's Health

Understanding Muscular Dystrophy -- Diagnosis and Treatment

Font Size
A
A
A

How is Muscular Dystrophy Diagnosed?

Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and tests. These might include:

  • A muscle biopsy (the removal and exam of a small sample of muscle tissue)
  • DNA (genetic) testing
  • Electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function)
  • Blood enzyme tests (to look for the presence of creatine kinase, which reveals deterioration of muscle fibers)

For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze the condition of the related gene. Genetic testing also is available for some forms of muscular dystrophy.

Recommended Related to Children

Hereditary Hemorrhagic Telangiectasia

This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site.

Read the Hereditary Hemorrhagic Telangiectasia article > >

What Are the Treatments for Muscular Dystrophy?

There is no cure for any form of muscular dystrophy, but medications and therapy can slow the course of the disease. Human trials of gene therapy with the dystrophin gene are on the near horizon. For instance, scientists are researching ways to insert a working dystrophin gene into the muscles of boys with Duchenne and Becker muscular dystrophies.

Researchers are investigating the potential of certain muscle-building medicines to slow down or reverse the progression of muscular dystrophy. Other trials are looking into the effects of the dietary supplements creatine and glutamine on muscle energy production and storage.

Conventional Medicine for Muscular Dystrophy

Symptoms often can be relieved through exercise, physical therapy, rehabilitative devices, respiratory care, and surgery:

  • Exercise and physical therapy can minimize abnormal or painful positioning of the joints and may prevent or delay curvature of the spine. Respiratory care, deep breathing, and coughing exercises are often recommended.
  • Canes, powered wheelchairs, and other rehabilitative devices can help those with MD maintain mobility and independence.
  • Surgery can sometimes relieve muscle shortening. In Emery-Dreifuss and myotonic muscular dystrophy, it's often necessary to surgically implant a cardiac pacemaker.

In some cases, disease progression can be slowed or symptoms relieved with medication:

  • In Duchenne muscular dystrophy, corticosteriods may slow muscle destruction.
  • In myotonic muscular dystrophy, phenytoin, procainamide, or quinine can treat delayed muscle relaxation.

Medications also can be prescribed for some muscular dystrophy-related heart problems.

Today on WebMD

child with red rash on cheeks
What’s that rash?
plate of fruit and veggies
How healthy is your child’s diet?
 
smiling baby
Treating diarrhea, fever and more.
Middle school band practice
Understanding your child’s changing body.
 

worried kid
fitArticle
boy on father's shoulder
Article
 
Child with red rash on cheeks
Slideshow
girl thinking
Article
 

Loaded with tips to help you avoid food allergy triggers.

Loading ...

Sending your email...

This feature is temporarily unavailable. Please try again later.

Thanks!

Now check your email account on your mobile phone to download your new app.

babyapp
New
Child with adhd
Slideshow
 
rl with friends
fitSlideshow
Syringes and graph illustration
Tool