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Getting the facts about muscular dystrophy

Last Modified: November 14, 2023

Diseases & Disorders, Family Medicine

muscular dystrophy

While discovering that your child has muscular dystrophy (MD) is disheartening, it’s important to know that many children with MD live active lives. Like most medical conditions, early detection and intervention is best. Here, we offer an overview of the genetic condition, including treatment options.

What is muscular dystrophy?

Muscular dystrophies are a group of rare, inherited muscle diseases caused by genetic mutations. These genetic mutations make it hard for the body to build and maintain healthy muscles, leading to progressive weakness and loss of muscle mass. MD occurs mostly in males, but not exclusively. 

Symptoms commonly begin in childhood, although sometimes don’t surface until adulthood. There is no cure for MD, but there are treatments that can help manage symptoms and slow the course of the disease.

Are there different types of muscular dystrophy?

Yes, there are several different types of MD with some showing up early in life and others later. Your child’s doctor may do tests to know what type your child has, including genetic tests and a biopsy of your child’s muscles.

The most common types of MD are:

  • Duchenne and Becker muscular dystrophies. Duchenne MD mostly affects boys starting at age 3 to 5. Boys with Duchenne MD may lose their ability to walk by age 12. Later in their life, they may also need a respirator to breathe. Becker MD usually starts later and tends to have less severe symptoms.
  • Facioscapulohumeral MD. Usually starting in the teen years, this affects both boys and girls causing weakness in the face, arm, and leg muscles. This weakness may be mild or disabling.
  • Myotonic MD. This affects boys and girls and appears at varying ages depending on what form of myotonic MD they have. It causes muscle spasms that make it hard to relax and causes muscles to weaken and shrink. It can be mild or severe.

What are the symptoms of muscular dystrophy?

The symptoms of MD vary based on the type of disease your child has and can depend on how severe the case is and how far the disease has progressed. In general, the main symptom of MD is general weakness in the arms, legs, hips or shoulders. Other symptoms include:

  • Facial weakness
  • Trouble walking
  • Frequent tripping
  • Learning delays
  • Heart and lung problems

How is muscular dystrophy diagnosed?

To diagnose MD, your child’s doctor will do a physical exam. The doctor may watch your child walk and perform simple tasks like standing up from a sitting position on the floor. They will also ask questions about your family’s health history.

If your child’s doctor suspects they might have MD, they will do blood tests. Genetic tests will also be done to make a diagnosis. In addition, a muscle biopsy could also be done, but that is less common.

Since the condition is passed down through families, other members of your family might also want to have genetic testing done to find out their risk of passing the gene.

How is muscular dystrophy treated?

While there isn’t a cure for MD, there are treatments that can help your child stay as active as possible. The goal of treatment is to manage symptoms and slow the progression of the disease. Treatment options may include:

  • Medicines, such as a steroid
  • Medicines to help prevent heart problems
  • Physical and occupational therapy
  • Respiratory and speech therapy
  • Devices to support the muscles, such as leg braces
  • Surgery to correct problems with the skeleton or to lengthen tendons
  • Counseling to help with mental health

As your child’s condition changes over time, talk with your provider about whether changes in diet or exercise could be helpful. There may also be clinical trials available that are testing new treatments and you can ask your doctor if there are any that you should think about for your child.

If you need a pediatrician, our Access Center can help! Call 877-PPG-TODAY or 877-774-8632 for assistance. To learn more about our Pediatric Specialties, visit us here.









Copyrighted material adapted with permission from Healthwise, Incorporated. This information does not replace the advice of a doctor.





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