How to diagnose and manage Duchenne Muscular Dystrophy (DMD)?

Muscular dystrophies are a group of diseases that make muscles weaker and less flexible over time. Duchenne muscular dystrophy is the most common type. It’s caused by flaws in the gene that controls how the body keeps muscles healthy.

dmd

Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year worldwide). Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.

Causes

Duchenne muscular dystrophyis caused by a problem in one of your genes. Genes contain the information your body needs to make proteins, which carry out many different body functions.

If you have Duchenne muscular dystrophy, the gene that makes a protein called dystrophin is broken. This protein normally keeps muscles strong and protects them from injury.

The condition is more common in boys because of the way parents pass Duchenne muscular dystrophy genes to their children. It’s what scientists call a sex-linked disease because it’s connected to the groups of genes, called chromosomes, that determine if a baby is a boy or a girl.

It’s rare, but sometimes people who don’t have a family history of Duchenne muscular dystrophy get the disease when their genes get defects on their own.

Symptoms & Signs

If your child has DMD, you’ll probably notice the first signs before he turns 6 years old. Muscles in the legs are usually some of the first affected, so he’ll probably start to walk much later than other children his age. Once he can walk, he may fall down often and have trouble climbing stairs or getting up from the floor. After a few years, he might also begin to waddle or walk on his toes.

Listed below are the common signs of Duchenne. If a boy has a combination of these traits, he should be tested for Duchenne:

  • Has a hard time lifting his head or has a weak neck
  • Is not walking by 15 months
  • Has a hard time walking, running, or climbing stairs
  • Is not speaking as well as other kids his age
  • Needs help getting up from the floor or walks his hands up his legs in order to stand (see Gower Maneuver, right)
  • Has calves that look bigger than normal (pseudohypertophy)
  • Walks with his legs apart
  • Walks on his toes and waddles
  • Walks with his chest pointed out (or has a sway back, saddle back, or hollow back)

 

Diagnosis

Unfortunately, once a child is born with duchenne muscular dystrophy, its progression cannot be stopped. However, once there is a known case of v within a family, it is possible to offer prenatal diagnoses in future pregnancies (for both the mother of the diagnosed child and for other women in the family) through genetic testing.

Genetic testing

Genetic testing refers to analysis of the gene itself, and it identifies the specific disease causing mutation. Genetic testing can also predict a person’s risk of developing a disease. For expectant mothers, genetic studies performed during pregnancy can detect Duchenne with about 95% accuracy.

Getting a Diagnosis

You should let your child’s doctor know about the symptoms you’ve been noticing. He’ll want to know your child’s medical history, then ask questions about his symptoms, like:

  • How old was your child when he started walking?
  • How well does he do things like run, climb stairs, or get up from the floor?
  • How long have you noticed these problems?
  • Does anyone else in your family have muscular dystrophy? If so, what kind?
  • Does he have any trouble breathing?
  • How well does he pay attention or remember things?

The doctor will give your child a physical exam, and he may do some tests to rule out other conditions that can cause muscle weakness.

If the doctor suspects duchenne muscular dystrophy, he’ll do some other tests, including:

  • Blood tests. The doctor will take a sample of your child’s blood and test it for creatine kinase, an enzyme that your muscles release when they are damaged. A high CK level is a sign that your child could have duchenne muscular dystrophy.
  • Gene tests. Doctors can also test the blood sample to look for a change in the dystrophin gene that causes duchenne muscular dystrophy. Girls in the family can get the test to see if they carry this gene.
  • Muscle biopsy. Using a needle, the doctor removes a tiny piece of your child’s muscle. He’ll look at it under a microscope to check for low levels of dystrophin, the protein that is missing in people with duchenne muscular dystrophy.

 

Treatment

There’s no cure for duchenne muscular dystrophy, but there are medicines and other therapies that can ease your child’s symptoms, protect his muscles, and keep his heart and lungs healthy.

Taking Care of Your Child

It’s overwhelming to learn that your child has duchenne muscular dystrophy. Remember that the disease doesn’t mean he can’t go to school, play sports, and have fun with friends. If you stick with his treatment plan and know what works for your child, you can help him live an active life.

  • Stand and walk as much as possible. Being upright will keep your child’s bones strong and his spine straight. Braces or standing walkers can make it easier for him to stand and get around.
  • Eat right. There’s no special diet for children with duchenne muscular dystrophy, but healthy foods can prevent weight problems or help with constipation. Work with a dietitian to make sure your child eats the right balance of nutrients and calories each day. You may need to see a specialist if your child has trouble swallowing.
  • Stay active. Exercise and stretches can keep your child’s muscles and joints limber and help him feel better. A physical therapist can teach him how to exercise safely without overworking.
  • Find support. Other families living with duchenne muscular dystrophy can be great resources for advice and understanding about life with the disease. Find a local support group or explore online discussion boards. It may also help you to talk about your feelings with a psychologist or counselor.

References:
http://www.parentprojectmd.org , http://www.webmd.com, https://en.wikipedia.org  https://cdn.musculardystrophynews.com

 

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