What does DMD disease (duchenne muscular dystrophy) mean? Why does it happen? What are the symptoms? Is there a cure? What is the life span? You can find the answers to all these questions and much more below.
What is DMD disease?
Muscular dystrophies are a group of diseases that make muscles weaker and less flexible over time, and Duchenne muscular dystrophy , also known as DMD disease , is the most common type, also a genetic disease. It is caused by defects in the gene that controls how the body keeps muscles healthy.
The disease almost always affects boys, and symptoms usually begin in early childhood. Children with DMD have difficulty standing, walking and climbing stairs. Many patients need a wheelchair in the future. In addition, the patient may experience heart and lung problems.
Although there is no definitive cure, conditions for people with DMD are better than at other times. Years ago, children with the disease generally lived less. Today, life expectancy has increased until the 30s and even 50s. There are treatments that can alleviate symptoms, and researchers are looking for new ones as well.
Causes of DMD disease
DMD disease is caused by a problem in one of your genes. Genes contain the information your body needs to make proteins that perform many different bodily functions.
If you have DMD, the gene that makes the protein called dystrophin is broken and the protein cannot be synthesized. This protein normally keeps the muscles strong and protects the muscles from injury. It is also more common in boys because of the way parents pass DMD genes to their children. It is less common in girls than boys.
This is what scientists call a sex-linked disease because it depends on groups of genes called chromosomes that determine whether a baby is a boy or a girl. Although rare, sometimes people with no family history of DMD get the disease when their genes mutate on their own.
DMD disease symptoms
If your child has this disease, you will likely notice the first symptoms before they are 6 years old. The muscles in the legs are often some of the first to be affected, so they will likely start walking much later than other children of their age.
When walking, he may fall frequently and have trouble climbing stairs or getting off the ground. General symptoms are listed below:
- difficulty walking
- loss of ability to walk
- Learning difficulties occurring in approximately one-third of affected individuals
- Lack of motor skill development
- Rapidly progressive weakness in the legs, pelvis, arms, and neck
DMD disease can also damage the heart, lungs, and other parts of the body. As they get older, your child may have other symptoms, such as:
- A curved spine, also called scoliosis
- Shortened, tight muscles in your legs (this is called a contracture )
- Problems with learning and memory
- Shortness of breath
- difficulty focusing
Muscle problems can sometimes cause cramps, but in general, DMD is not painful. Although some children with the disorder have learning and behavioral problems, it does not affect their intelligence.
DMD disease diagnosis
First of all, you should inform your child’s doctor about the symptoms you notice. The doctor will want to know your child’s medical history and then ask questions about their symptoms, such as:
- How old was your child when he started walking?
- How well does it do things like run, climb stairs, or get up off the floor?
- How long have you noticed these problems?
- Does anyone else in your family have muscular dystrophy? If yes, what kind?
- Any breathing problems?
- How much does he pay attention or remember things?
Next, the doctor will give your child a physical exam and may also do some tests to rule out other conditions that could be causing muscle weakness.
If the doctor suspects DMD, he or she may perform other tests, including:
- Blood tests: The doctor takes a sample of your child’s blood and tests it for creatine kinase , an enzyme that muscles release when damaged . A high creatine kinase level is a sign that your child may have this disease.
- Gene tests: Doctors may also test a blood sample to look for a change in the dystrophin gene that causes DMD. Other family members may also be tested to see if they carry this gene.
- Muscle biopsy: Using a needle, the doctor removes a small piece of your child’s muscle. He or she will examine it under a microscope to check for low levels of dystrophin, the protein that is missing in people with this disease.
Questions to ask the doctor
If your child has DMD, you may want to learn as much as possible about their condition and consider asking the following questions:
- What does this disease mean for my child?
- Does she need to see another doctor?
- What types of treatments are there?
- How will my child feel?
- How can I help it be active?
- What can I do about the diet?
DMD disease treatment
There is no clear targeted cure for DMD disease, but there are medications and other treatments that can relieve your child’s symptoms, protect their muscles, and keep their heart and lungs healthy.
Eteplirsen is approved for the treatment of DMD disease. It is an injection drug that helps treat individuals with a specific mutation of the gene that causes DMD. The most common side effects are balance problems and vomiting. The drug increases the production of dystrophin, which will affect the improvement in muscle function.
Deflazacort was approved to treat DMD in 2017, making it the first drug to receive FDA (Food and Drug Administration) approval from any corticosteroid (a group of chemical drugs similar to hormones released from the adrenal glands) to treat the condition. Deflazacort has been found to help patients maintain their muscle strength as well as maintain their ability to walk. Common side effects include swelling, increased appetite, and weight gain.
Synthetic corticosteroid drugs, such as prednisone , slow muscle damage. Children taking this medicine may walk for 2 to 5 years longer. Medicines can also help your child’s heart and lungs work better.
Remember, the doctor will decide which drug to take and how.
Because DMD disease can cause heart problems, it’s important for your child to see a heart doctor, called a cardiologist, every 2 years until age 10 and annually thereafter.
Girls and women who carry the gene have a higher risk of heart problems. They should see a cardiologist in their teens or early adult years to check for any problems.
Some blood pressure medications can protect against muscle damage in the heart.
Children with DMD may need surgery to correct shortened muscles, straighten the spine, and treat a heart or lung problem.
Scientists continue to look for new ways to treat DMD in clinical trials . These trials also test whether new drugs are safe and work. It’s also often a way for people to try new drugs that aren’t available to everyone. Your doctor can tell you if one of these studies is right for your child.
Caring for your child
Finding out that your child has DMD is very difficult at first. Remember that illness doesn’t mean you can’t go to school, play sports, and have fun with friends. If you stick to the treatment plan and know what works for your child, you can help him lead an active life.
- Get him to stand and walk as much as possible: Being upright will keep your child’s bones strong and his spine straight. Braces or some medical devices may make it easier for him to stand and move around.
- Eating right: There is no special diet for children with DMD, but healthy foods can prevent weight problems or help with constipation. You can work with a dietitian to make sure your child is getting the right balance of nutrients and calories each day.
- Staying active: Exercise and stretching can keep your child’s muscles and joints flexible and help him feel better. A physical therapist can teach him how to exercise safely without overworking.
- Finding support: Other families living with DMD can be great resources for advice and understanding about the disease. Find a local support group or explore online discussion groups. Talking about your feelings with a psychologist or counselor can also help.
DMD disease life expectancy
Until relatively recently, children with DMD often died in their early teens. Life expectancy is now increasing thanks to advances in cardiac and respiratory care, and many young adults with DMD are going to college, pursuing careers, getting married, and having children. Thanks to increasing technological developments and treatment applications, it is becoming more common than before for DMD patients to live a long life.