Does your child fall down often? Or do you find it difficult for him to get up, climb stairs, run, or jump? Sometimes these are normal things that happen to young children as they grow. However, sometimes there may be a problem with the muscles behind them that needs attention. That's why we are going to talk about a group of diseases that gradually weaken the muscles.
What is Muscular Dystrophy?
Simply put, muscular dystrophy is a general name for a group of diseases that weaken the muscles of our body over time and reduce their flexibility. The main cause of this is a defect in the genes that help keep our muscles healthy.
Some people may develop the disease at a young age, while others may not show any symptoms until they are ten or fifteen years old, or even into adulthood.
The way this disease affects each person is different. It depends on the type of disease. For many people, the condition may gradually worsen over time. Some people may even lose the ability to walk or talk. However, this does not happen to everyone . Some people live a normal life for years with mild symptoms. So there is no need to panic in advance.
What are the main types of this?
There are more than 30 types of muscular dystrophy. But there are 9 main types that we see most often. Each type differs in terms of the gene that causes it, the muscles affected, the age at which symptoms begin, and the rate at which the disease progresses.
| Disease Name | Short Description |
|---|---|
| Duchenne muscular dystrophy (DMD) | This is the most common type. It mainly affects boys. It starts between the ages of 3-5. |
| Becker muscular dystrophy | Similar to Duchenne, but the symptoms are not as severe. This is also more common in boys. Symptoms appear between the ages of 11-25. |
| Myotonic muscular dystrophy | The most common type among adults. The main symptom is the inability to relax a muscle after it has contracted. It can affect both men and women. It usually begins in the 20s. |
| Congenital muscular dystrophy | It begins at birth or shortly after birth. |
| Limb-girdle muscular dystrophy | It affects the muscles around the hips and shoulders. It can start in the teens or 20s. |
| Facioscapulohumeral muscular dystrophy | It affects the muscles of the face, shoulders, and upper arms. It can affect people from young ages to adults in their 40s. |
| Distal muscular dystrophy | It affects the muscles of the arms, legs, hands, and feet. It usually begins between the ages of 40-60. |
| Oculopharyngeal muscular dystrophy | It begins in the 40s and 50s. It causes muscle weakness in the face, neck, and shoulders, drooping eyelids (ptosis), and difficulty swallowing (dysphagia). |
| Emery-Dreifuss muscular dystrophy | It most often affects boys and begins around the age of 10. In addition to muscle weakness, heart problems can also occur. |
Why does this kind of disease occur? (Causes)
This disease can be inherited, or it can develop first in you or your child without anyone in your family having it. This is caused by a defect in the genes .
Think about it, these genes instruct the cells in our body to make the proteins they need to do various jobs. It's like a recipe for a meal. If a gene is faulty, the cells can make the wrong protein, less protein than they need, or a damaged protein.
People with muscular dystrophy have a defect in the genes that produce proteins that keep muscles healthy and strong. For example, in Duchenne and Becker, a protein called dystrophin is produced very little. This dystrophin protein strengthens muscles and protects them from damage. When this protein is lost, muscles are easily damaged and weaken.
How to recognize it? (Symptoms)
Symptoms of many types of the condition begin to appear in childhood or adolescence. In general, a child with this condition may exhibit the following symptoms:
- Frequent falling
- Feeling of weakness in the muscles
- Muscle cramps
- Difficulty getting up from a sitting position, climbing stairs, running, or jumping
- Walking on tiptoes or waddling
It's important for us as parents to pay attention to our children's movements, especially their play. If you notice anything unusual, don't hesitate to talk to a doctor.
In addition, some people may also experience symptoms such as:
- Scoliosis
- Drooping eyelid
- Heart problems
- Difficulty breathing or swallowing food
- Visual impairments
- Weakness of facial muscles
How does the doctor confirm this? (Diagnosis)
The doctor will do several tests to determine if your child has muscle weakness. First, they will do a general physical exam, ask you about your family medical history, and ask about your child's symptoms.
After that, several tests like these may be done to rule out other conditions that could be causing muscle weakness and to definitively diagnose the disease.
| Test Name | Simply put, this is what you do... (Simple Explanation) |
|---|---|
| Blood tests | The levels of certain enzymes that accumulate in the blood when muscles are damaged are checked. |
| Electromyography (EMG) | Tiny electrodes are inserted into the muscles and the electrical activity of the muscles is measured. |
| Muscle biopsy | A very small piece of muscle is taken with a needle and examined under a microscope. This can identify which proteins are missing or damaged. |
| Electrocardiogram (EKG/ECG) | The heart's electrical signals are measured to check whether the heart rate and rhythm are healthy. |
| Genetic tests | By testing a blood sample, it is possible to determine exactly which faulty genes are causing muscle weakness. |
What are the treatments?
Currently, there is no cure for muscular dystrophy. However, there are many treatments that can help control symptoms, make life easier, and give your child the best possible quality of life. Your doctor will recommend the most appropriate treatment based on the type of condition your child has.
- Physical therapy: Various exercises and stretches help keep muscles strong and flexible.
- Occupational therapy: Teaches the child how to perform daily tasks (e.g., dressing, writing) to the best of their ability. Also teaches them how to use devices such as wheelchairs and canes.
- Speech therapy: If you have difficulty speaking due to weakness in your face or throat muscles, we will teach you easy ways to do so.
- Medicines:
- Specific drugs, such as `Eteplirsen (Exondys 51)`, which increase dystrophin production for some types of DMD.
- Drugs that reduce muscle spasms.
- Blood pressure medications for heart problems.
- Steroids such as `Prednisone` can slow down muscle damage. However, these have side effects and should only be used under the advice of a doctor .
- Surgery: Surgery may be required for complications such as spinal stenosis and heart problems.
Things to consider when caring for a child
It's normal for parents to feel sad when their child's energy gradually wanes and they can't run and play like other children. But you can help your child live happily despite this challenge.
- Provide good nutrition: A balanced diet helps your child maintain a healthy weight. This can reduce things like breathing difficulties.
- Stay active: Low-impact exercises like swimming can help strengthen muscles. Ask your physical therapist about this.
- Use assistive devices: Encourage your child to use wheelchairs, crutches, etc. if necessary.
- Stay strong: Talk to family, friends, or a counselor about the stress, sadness, and anger you're feeling during this journey. Also, support groups with other parents of children with this condition can be a great source of strength.
This disease does not affect everyone the same. Some children lose muscle strength very quickly. Others may lose it more quickly. Therefore, it is important to talk openly with your child's doctor about his condition and develop a treatment plan that best suits him.
Take-Home Message
- Muscular dystrophy is a genetic disease that causes muscles to weaken over time.
- Early symptoms in children may include frequent falls, difficulty getting up, and walking on tiptoes.
- Because there are many types of this disease, it is essential to seek medical advice for an accurate diagnosis.
- Although there is no complete cure, physical therapy, medication, and other treatments can control symptoms and maintain a good quality of life.
- It is very important to provide psychological support and a positive environment for the child and family. Talk to your doctor about any concerns.


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