Before we begin: Muscular dystrophy (MD) is characterized by progressive weakness and muscle damage. Read about who it affects and the prognosis.
This tutorial walks you through everything you need to know about muscular dystrophy. We explain it in plain language, step by step, so whether you are a student, a patient, or simply curious, you will come away with a solid understanding.
We cover what it is, why it matters, how it is diagnosed, and what you can do about it. Key facts are called out along the way.
What is muscular dystrophy (MD)? Muscular dystrophy (MD) is a group of more than 30 genetic diseases. They cause weakness of the muscles. Over time, the weakness gets worse and can cause trouble walking and doing daily activities. Some types of MD can also affect other organs.
What are the types of muscular dystrophy (MD)? There are many different types of MD. Some of the more common types include:
Duchenne muscular dystrophy, which is the most common childhood form. It is severe and affects boys more often than girls. The symptoms usually start between ages 3 and 6.
Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. It often starts in the teenage years.
Congenital muscular dystrophies, which are present at birth or before age 2. They can be mild or severe.
Facioscapulohumeral muscular dystrophy, which often starts in the teenage years. At first, it affects the muscles of the face, shoulders, and upper arms.
Each of the types of MD can be different in many ways, such as:
Who is more likely to get them
Which muscles they affect
When they appear, such as in infancy, childhood, middle age, or later
What the symptoms are
How serious the symptoms are
How quickly they get worse
Whether they run in families
Whether they affect other organs
Even within the same type of MD, people can have different symptoms.
What causes muscular dystrophy (MD)? MD is genetic, meaning that it caused by a change in one or more genes. Gene changes are also called gene variants or mutations. The gene changes in MD affect proteins that strengthen and protect muscles.
There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can have different gene changes.
Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy.
How is muscular dystrophy (MD) diagnosed? To find out if you or your child has MD, your health care provider may use:
A medical and family history
A physical exam
Blood and urine tests, including genetic tests and tests for certain enzymes that may be released by damaged muscles
Muscle biopsies
Electromyography and nerve conduction studies to find out if muscles are responding the right way to nerve signals
Heart testing, such as an electrocardiogram (EKG), since some types of MD can cause heart problems
Exercise tests to measure muscle strength and breathing and detect any increased rates of certain chemicals following exercise
Imaging tests such as an MRI to look at muscle quality and bulk and measure fatty replacement of muscle tissue
What are the treatments for muscular dystrophy (MD)? There is no cure for muscular dystrophy. Treatment can help with the symptoms and prevent complications. It usually includes a combination of therapies, such as:
Physical therapy to help keep muscles flexible and strong
Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles
Respiratory care, such as breathing exercises, oxygen therapy, and ventilators
Speech therapy to help with speech and swallowing problems
Assistive devices, such as wheelchairs, splints and braces, and walkers
Medicines to help delay damage to muscles or minimize the symptoms of MD
Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts
NIH: National Institute of Neurological Disorders and Stroke
Also known as: MD.
Related topics: Duchenne Muscular Dystrophy.
Categories: Bones, Joints and Muscles, Genetics/Birth Defects.
Source: National Institutes of Health — National Institute of Neurological Disorders and Stroke.
Key Takeaways
Understanding muscular dystrophy is an important part of taking charge of your health. Here is what to remember:
- Know the signs — Recognizing early symptoms can lead to earlier diagnosis and better outcomes.
- Talk to your provider — If you have concerns or a family history of this condition, bring it up at your next checkup.
- Stay informed — Medical knowledge evolves. Keep learning and asking questions.
- You are not alone — Many people deal with this condition. Support groups and educational resources can help.