Muscular dystrophy in children

Muscular dystrophy is a group of diseases that make muscles weaker and less flexible over time. This is caused by a problem in the genes that control how the body maintains healthy muscles. For some people, the disease begins in early childhood. Others don't have any symptoms until they are teenagers or middle-aged adults.

How muscular dystrophy affects you or your child depends on the type of muscular dystrophy. Most people's condition worsens over time, and some people may lose the ability to walk, talk, or take care of themselves. But this doesn't happen to everyone. Other people may live for many years with mild symptoms.

There are over 30 types of muscular dystrophy, and each one is different based on:

Genes that cause it
The muscles it affects
Age of onset of symptoms

How quickly does the disease worsen?

People usually get one of nine major forms of the disease:

Duchenne muscular dystrophy is the most common form. The disease mainly affects boys and begins between the ages of 3 and 5 years.
Becker muscular dystrophy is similar to Duchenne dystrophy, but more mild. It also affects boys, but symptoms appear later, between the ages of 11 and 25.
Myotonic muscular dystrophy is the most common form in adults. People who suffer from this are unable to relax the muscles after the contraction. It can affect both men and women and usually starts in people's twenties.
Congenital muscular dystrophy begins at birth or shortly thereafter.
Limb-Girdle muscular dystrophy of the limbs and girdle often begins in adolescence or twenties.
Facioscapulohumeral muscular dystrophy affects the muscles of the face, shoulders and forearms. It can affect anyone, from teenagers to adults in their 40s.
Distal muscular dystrophy affects the muscles of the arms, legs, hands and feet. It usually occurs later in life, between the ages of 40 and 60.
Oculopharyngeal muscular dystrophy begins at 40-50 years of age. It causes weakness in the muscles of the face, neck, and shoulders, as well as drooping of the eyelids (ptosis), followed by difficulty swallowing (dysphagia).
Emery-Dreifuss muscular dystrophy mainly affects boys, usually from the age of 10. People with this form often have heart problems as well as muscle weakness.

There are many therapies that can help keep muscles strong and flexible, and scientists are also researching new ones. It is important to get the necessary treatment and find support.

Causes

Muscular dystrophy can be inherited, or you can be the first in your family to have it. The condition is caused by problems in your genes.

Genes contain the information your cells need to make proteins that control all the different functions in the body. When a gene has a problem, your cells can make the wrong protein, the wrong amount, or a damaged protein.

You can get muscular dystrophy even if neither of your parents had it. This happens when one of your genes has a defect on its own. But rarely does anyone succeed.

In people with muscular dystrophy, the broken genes are the proteins that make muscles healthy and strong. For example, people with Duchenne or Becker muscular dystrophy produce too little of a protein called dystrophin, which strengthens muscles and protects them from injury.

Symptoms

For most types of muscular dystrophy, symptoms begin during childhood or adolescence. In general, children with the condition:

Fall down often
Have weak muscles
Have muscle cramps
Have trouble getting up, climbing stairs, running, or jumping
Walk on their toes or waddle

Some will also have symptoms like:

A curved spine (called scoliosis)
Droopy eyelids
Heart problems
Trouble breathing or swallowing
Vision problems
Weakness in the muscles of the face

Diagnosis

Your doctor will need to examine various parts of your child's body to find out if they have muscular dystrophy. It will begin with a general medical examination. They will also ask you questions about your family's medical history and the types of symptoms you have noticed in your child. He may ask:

Which muscles seem to be giving him trouble?
Does he has a hard time walking or doing his usual activities?
How long has this been happening?
Does anyone in your family have muscular dystrophy? What kind?

They may also ask you questions about how your child plays, moves, and talks, as well as how they behave at home and at school.

A doctor may use a variety of tests to look for conditions that may be causing muscle weakness.

Blood tests. They check the levels of certain enzymes that muscles release when they are damaged.
Electromyography. Your doctor will place small needles called electrodes on different parts of your child's body and ask them to slowly flex and relax the muscles. The electrodes are attached by wires to a machine that measures electrical activity.
Muscle biopsy. Using a needle, the doctor takes a small piece of muscle tissue from the child. He examines it under a microscope to see which proteins may be missing or damaged. This test can show the type of muscular dystrophy your child may have.
Tests of muscle strength, reflexes and coordination. This helps doctors rule out other problems with his nervous system.
ECG. It measures the heart's electrical signals and shows you how fast your baby's heart is beating and whether it has a healthy rhythm.
Imaging can show the quality and quantity of muscles in your child's body. He can get:

Magnetic resonance imaging. He uses powerful magnets and radio waves to take pictures of his organs.
Ultrasound, which uses sound waves to produce an image of the inside of the body.

Doctors can also test a sample of his blood to look for genes that cause muscular dystrophy. Genetic testing can help diagnose the condition, but it is also important for people with a family history of the condition who are planning to start a family. You can talk to your doctor or genetic counselor to find out what the results of this test mean for you and your children.

Questions for the doctor

You will want to learn as much as you can about your child's condition so that you know how he can stay as healthy as possible. You can ask :

What kind of muscular dystrophy does he have?
Does he need any more tests?
Do we need to see any other doctors?
How will the disease affect his life?
What kinds of treatments are available?
How will they make him feel?
What can I do to keep his muscles strong?
Are there any clinical trials that would be good for him?
Will my other children get muscular dystrophy?

Treatment

There is currently no cure for the disease. But there are many treatments that can improve symptoms and make life easier for you and your baby.

Your doctor will recommend treatment based on the type of muscular dystrophy your child has. Some of them:

Physiotherapy uses a variety of exercises and stretches to keep muscles strong and flexible.
Occupational therapy teaches your child how to get the most out of what their muscles can do. The therapists can also show her how to use wheelchairs, braces, and other devices that can help her with her daily life.
The speech therapist will teach him easier ways to speak if he has weak throat or facial muscles.
Respiratory therapy may help if your child has trouble breathing. He learns how to ease his breathing or get help from machines.
Medications can help relieve symptoms.

Eteplirsen (Exondys 51) is approved for the treatment of Duchenne muscular dystrophy. It is an injectable drug that helps treat people with a specific gene mutation that leads to Duchenne muscular dystrophy. The most common side effects are balance problems and vomiting. Although the drug increases dystrophin production, which may predict improvement in muscle function, this has yet to be demonstrated.
Anti-seizure drugs reduce muscle spasms.
Blood pressure medications help relieve heart problems.
Medicines that weaken the body's immune system, called immunosuppressants, can slow down damage to muscle cells.
Steroids such as prednisolone and defazacort (Emflaza) slow down muscle damage and may help your child breathe better. They can cause serious side effects such as bone weakness and an increased risk of infections.
Creatine, a chemical naturally present in the body, can help provide muscle energy and improve strength in some people. Ask your child's doctor if these supplements are right for him.

Surgery can help with various complications of muscular dystrophy, such as heart problems or difficulty swallowing.

Scientists are also looking for new ways to treat muscular dystrophy in clinical trials. These trials test new drugs to make sure they are safe and work. They are often a way to try new drugs that are not available to everyone. Your doctor can tell you if any of these tests are right for your child.

Taking care of your child

It's hard when your child loses strength and cannot do what other children can do. Muscular dystrophy is a problem, but it shouldn't stop your child from enjoying life.

There are many things you can do to help him feel stronger and get the most out of life.

Eat well. A healthy, well-balanced diet is good for your child overall. It's also important to help her maintain a healthy weight, which can help with breathing problems and other symptoms. If he has trouble chewing or swallowing, talk to a nutritionist about foods that are easier for him to eat.
Stay active. Exercise can improve your child's muscle strength and make him feel better. Try low-impact activities like swimming.
Sleep. Ask your doctor or therapist about some beds or pillows that can make your child more comfortable and rested.
Use the right tools. Wheelchairs, crutches, or electric scooters can help your child if they have trouble walking.

The illness is likely to have a significant impact on your family. Remember that you can seek help from a doctor, counselor, relatives or friends if you feel stressed, sad or angry. Support groups are also a good place to connect with other people who have lived with muscular dystrophy. They can help your child connect with others like him and give you and your family guidance and understanding.

What to expect

Muscular dystrophy is different for everyone. Some children may lose muscle strength very slowly, giving them and their families time to adjust to the changes. Others will get worse faster. Many people with this condition will need wheelchairs and assistance with daily living at some point, but this is not always the case.

Talk to your doctor about your child's muscular dystrophy. Together you can develop the best treatment plan for him and get the support he needs for his family.