Have you or someone in your family, especially a child, noticed that your body is slowly losing strength? Perhaps it's become more difficult to walk, run, or climb stairs. Have you ever had difficulty getting up from a sitting position, using your hands to press down on the floor and your knees to get up? If you have these symptoms, we're going to talk about one possible cause today. That's muscular dystrophy. Don't be scared when you hear the name. Let's talk about this simply, in a way that everyone can understand.
What is Muscular Dystrophy?
Simply put, muscular dystrophy is a group of more than 30 genetic conditions that affect the function of our muscles, gradually weakening them. "Genetic" means that it can be passed down from generation to generation. In these conditions, the body loses its ability to produce proteins needed to maintain healthy muscles. As a result, the muscles lose strength over time and shrink.
This is actually a condition called myopathy, which means it affects the muscles attached to our skeleton. Depending on the type of disease, it can affect your ability to walk, move, and perform daily tasks. It can also affect the muscles that help our heart and lungs function.
Some types of muscular dystrophy are congenital or appear in childhood. Other types appear in adulthood.
What are the main types of muscular dystrophy?
As we mentioned earlier, there are more than 30 types of this. But let's talk about a few of the most common types that we see frequently. It will be easier for you to understand these details in a table.
| Type of disease | A simple explanation |
|---|---|
| Duchenne Muscular Dystrophy (DMD) | This is the most common type. It mainly affects boys . Girls can also develop it in a milder form. As the disease progresses, the heart and lungs are also affected. |
| Becker Muscular Dystrophy (BMD) | This is the second most common type. It also affects mainly boys. Symptoms can appear at any age between 5 and 60 years, but usually begin in adolescence. The severity of the disease varies from person to person. |
| Myotonic Dystrophy | This is the most common type diagnosed in adulthood. It affects both men and women equally. People with this condition have difficulty relaxing a muscle after using it. It can also cause problems with the heart, lungs, and hormones like thyroid and diabetes. |
| Congenital Muscular Dystrophies (CMD) | "Congenital" means present from birth. These types appear at or near birth. They usually involve muscle weakness throughout the body. Sometimes there may be stiffness or looseness of the joints. They may also cause things like scoliosis, breathing difficulties, intellectual disability, eye problems, or seizures. |
| Facioscapulohumeral Dystrophy (FSHD) | This type mainly affects the muscles of the face, shoulders, and upper arms. Symptoms usually appear before the age of 20. |
| Limb-Girdle Muscular Dystrophy (LGMD) | This affects the muscles of the upper arms, upper legs (thighs), shoulders, and hips. It can develop at any age. |
The important thing is that the symptoms and the speed at which they affect each type are different, so it is very important to correctly identify the type of disease.
What are the symptoms of muscular dystrophy?
The symptoms of this disease can vary greatly depending on the type. But the main symptom is muscle weakness and related problems. These symptoms usually gradually increase over time.
Let's divide these symptoms into two parts.
| Characteristic type | Things to see |
|---|---|
| Muscle and movement related characteristics | |
| Muscle contraction | Muscle wasting and shrinking (Muscle atrophy). |
| Difficulty moving | Difficulty walking, climbing stairs, or running. |
| Abnormal gait | Waddling gait or toe walking, like a duck. |
| Joint problems | Joint stiffness or unnecessary looseness. |
| Muscle tightness | Permanent tightening of muscles, tendons, and skin (contractures). |
| Muscle pain | Body and muscle pain. |
| Other common features | |
| Body fatigue | Fatigue. |
| Difficulty swallowing | Difficulty swallowing food and drink (Dysphagia). |
| Heart problems | Heart rhythm irregularities (arrhythmia) and heart disease (cardiomyopathy). |
| Back changes | Scoliosis. |
| Learning disabilities | Some types may cause learning difficulties or intellectual disabilities. |
Why does this disease occur? What is the cause?
The main reason for this is changes (mutations) in genes.
Imagine that our muscles have a blueprint called genes that keep them healthy and strong. If there is a change or mutation in these genes, that blueprint is disrupted. Then the cells that maintain and build muscles cannot do their job properly. As a result, the muscles gradually weaken.
There are three ways this disease is inherited.
- Recessive inheritance: In this method, the child must inherit the defective gene from both parents for the disease to occur.
- Dominant inheritance: Here, the defective gene for the disease to occur must be inherited from one parent .
- Sex-linked (X-linked) inheritance: This is a bit more complicated. Women have two X chromosomes (XX), while men have one X and one Y chromosome (XY). The defective gene for the disease is on the X chromosome. Men only have one X chromosome, so if it is defective, the disease will definitely develop. Women have two X chromosomes, so if one is defective, the other healthy X chromosome may not cause symptoms or may cause very mild symptoms. The two types, Duchenne and Becker, are inherited in this way.
Very rarely, this disease can occur due to a random genetic mutation (de novo mutation) in the child's body, without any defects in the parents' genes.
How do you find out if you have this disease?
If you or your child has any of these symptoms, the first thing you should do is see an experienced doctor. The doctor will first examine you thoroughly, ask about your symptoms and family history, and may then recommend several tests to confirm the diagnosis.
- Creatine kinase blood test: When our muscles are damaged, they release an enzyme called creatine kinase into the blood. If the level of this enzyme is elevated in the blood, it is a sign that the muscles are damaged.
- Genetic tests: These can definitively determine whether there are defects in the genes associated with muscular dystrophy.
- Muscle biopsy: This involves taking a very small piece of tissue from a muscle and examining it under a microscope. This can help identify signs of the disease.
- Electromyography (EMG): This test measures the electrical activity of muscles and nerves.
How is it treated and managed?
The first and most important thing to say is that there is no cure for this disease yet. Researchers are continuing to work on it.
But that doesn't mean there's nothing you can do. There are many things you can do to manage your symptoms and improve your quality of life.
Treatment methods may vary depending on the type of disease. The main things that are done are:
- Physical and occupational therapies: These help strengthen muscles and increase flexibility. This can help maintain mobility for as long as possible.
- Corticosteroids: Drugs like prednisolone can help slow muscle weakness, improve lung function, slow down bone loss, and prolong survival.
- Mobility aids: Devices like canes, walkers, and wheelchairs help you walk, get around, and prevent falls.
- Surgery: Surgery may be necessary to relax tight muscles or correct scoliosis.
- Heart care: Early initiation of medications such as ACE inhibitors and beta-blockers can help control damage to the heart muscle. Devices such as pacemakers may also be needed.
- Speech therapy: This can help people who have difficulty swallowing.
- Respiratory care: Cough-assist devices, respirators, and sometimes assisted ventilation may be needed to help with breathing difficulties.
Recently, new drugs have been introduced that can modify the course of the disease in some types, such as Duchenne muscular dystrophy.
How is life with this disease?
The length of time you can live with this disease varies greatly depending on the type of disease. For example, people with Duchenne muscular dystrophy (DMD) often die by the age of 25. However, some types, such as oculopharyngeal muscular dystrophy, usually have no impact on life expectancy. Therefore, the best person to know the most accurate information about your condition is your treating doctor.
Since this is a genetic disease, there is no way to prevent it. However, if you have this disease, or if someone in your family has it, you can talk to your doctor about getting genetic counseling before having a child.
These things can help prevent or delay complications from the disease and make life easier:
- Eat a nutritious, healthy diet.
- Drink plenty of water to prevent dehydration and constipation.
- Exercise as much as possible, as recommended by your medical team.
- Maintain a healthy weight.
- If you smoke, quit. It can protect your lungs and heart.
- Get vaccinated on time.
Living with a disease like this can be challenging for you and your family. Therefore, always make sure you get the best medical treatment and care you need. Also, joining support groups with people who have been through the same things as you can be a great source of mental strength.
Take-Home Message
- Muscular dystrophy is not a single disease, but a group of genetic disorders that gradually weaken muscles.
- Although the main symptom is muscle weakness, the symptoms and severity of the disease vary from type to type.
- Although there is no cure for this yet, there are many treatments that can help manage symptoms and lead a better life.
- If you or your child has symptoms of muscle weakness, see a doctor immediately for advice. The sooner the disease is diagnosed, the easier it will be to manage.
- You are not alone. There are medical teams and support groups to help you and your family on this journey.
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