Duchenne Muscular Dystrophy, or DMD, is a rare condition that affects muscles and is a genetic disease. This genetic disease leads to muscle weakness and loss due to a lack of proteins in the body that strengthen muscles. It is a progressive disease that usually appears in early childhood and can lead to limited mobility and serious health problems over time. Early diagnosis and appropriate treatment management can slow the progression of the disease and improve quality of life.
The disease usually shows symptoms in early childhood and these symptoms manifest as progressive muscle weakness, difficulty walking and other muscle problems.
What are the symptoms of DMD muscle disease?
DMD symptoms can vary from patient to patient and can progress over time. Early diagnosis and appropriate management can help control symptoms and improve quality of life. Therefore, it is important that symptoms are diagnosed and treated early. It is important to consult a specialist in case of suspicion of the disease. Symptoms related to the disease are usually as follows:
Muscle Weakness: The most prominent sign of the disease is progressive weakness in the muscles, usually initially in the legs. This weakness can affect the child's ability to walk and may spread to other muscle groups over time.
Muscle Cramps: In addition to muscle weakness, muscle cramps and muscle stiffness can also occur. This can cause the patient to experience discomfort when moving or resting.
Difficulty Walking: Cases often have difficulty walking. Initially, there may be difficulties with the ability to walk on their toes (walking on their toes) and climbing stairs.
Balance Problems: It can lead to balance problems and increase the risk of patients falling.
Loss of Muscle Mass: Over time, muscles can lose mass, which can lead to weakness and a thin appearance to the body.
Kyphosis (hunchback): Patients may experience a hunched forward bend in the back (kyphosis).
Respiratory Problems: As the disease progresses, respiratory problems may arise due to the respiratory muscles being affected. This can cause patients to have difficulty breathing.
Heart Problems: The condition can also affect the heart muscles and increase the risk of heart failure.
Scoliosis: Curvature of the spine (scoliosis) is a common problem in cases.
Emotional and Behavioral Problems: Some patients may experience emotional and behavioral problems.
What is the prognosis of DMD?
The course of DMD may vary from individual to individual, but in general, it may go through the following stages:
Early Childhood: It usually shows symptoms in the first years of the child's life. Initial symptoms may include muscle weakness, difficulty walking and muscle cramps. Children usually start walking on their toes.
Childhood Period: This is the period when patients experience increased muscle weakness and restricted mobility. During this period, the ability to walk deteriorates further and wheelchair use may often be required. Heart and respiratory problems may also become more pronounced during this period.
Adolescence Symptoms may worsen during puberty. Musculoskeletal problems such as scoliosis (curvature of the spine) may become more common. The risk of heart failure increases and breathing problems can become more serious.
Early Adulthood: During this period, patients become more muscle weak and are at increased risk of potentially life-threatening heart and respiratory problems.
The course of the disease can vary depending on a number of factors, including the patient's genetic factors, early access to treatment, physical therapy and other supportive therapies.
How is DMD Diagnosed?
There are various medical tests and methods used to diagnose DMD. The diagnosis is usually made through a combination of clinical symptoms, family history and laboratory tests. The main methods used to diagnose the disease can be listed as follows:
Clinical Assessment: A pediatrician or neurologist performs a physical examination to assess the patient's symptoms. This examination helps to detect muscle weakness, difficulty walking, balance problems and other symptoms.
Family History: The family history is examined to determine whether this disease is a genetic disorder and whether there are people in the family history with similar symptoms.
Creatine Kinase (CK) Test: Creatine kinase (CK) levels are a blood test that reflects muscle damage. Patients often have elevated CK levels. This test is part of the diagnostic process.
Genetic Testing: Mutations in the DMD gene cause the disease. Genetic tests are used to detect mutations in the patient's DMD gene. Genetic testing is usually done to confirm the diagnosis of the disease and to identify carrier family members.
Muscle Biopsy: A muscle biopsy is a sample taken to examine muscle tissue under a microscope. However, this method is usually used before genetic testing or to support the diagnosis.
Electromyography (EMG) and Nerve Conduction Tests: EMG measures the electrical activity of muscles and nerve conduction tests assess the functioning of nerves. These tests are used to assess the effects of DMD on the muscle and nervous system.
Muscle Magnetic Resonance Imaging (MRI): Muscle MRI is used to assess muscle weakness and muscle loss.
ECHO and ECG: Electrocardiography (ECG) and echocardiography (ECHO) tests to assess heart function are used to monitor patients' heart problems.
What are the Treatment Methods for DMD?
DMD treatment requires a multidisciplinary approach and aims to manage symptoms, slow muscle loss and improve quality of life. The main components of treatment may include
Physical Therapy and Exercise: Physical therapy is used to strengthen muscles, increase flexibility and protect muscles. Physical therapists can improve mobility and muscle function by providing patients with specialized exercise programs and devices.
Respiratory Therapy: As the disease progresses, respiratory muscles can also be affected. Respiratory therapists can teach patients breathing exercises and how to use breathing devices. This can help manage breathing problems.
Orthopedic Care: Musculoskeletal problems such as scoliosis (curvature of the spine) are common in such cases. Orthopedic doctors monitor these problems and may recommend corrective surgeries or orthotics as needed.
Monitoring Heart Problems: Patients' heart function should be monitored regularly. Heart medications and treatments may be needed.
Gene Therapies: Newly developed gene therapies aim to correct the deficiency or mutation in the DMD gene that causes the disease. This area is still in the research phase, but may hold promise in the future.
Participation in Clinical Trials: Some patients may be able to participate in clinical trials evaluating new treatments. These trials are conducted to test treatment methods that are in progress.
The care and treatment of patients is managed by a multidisciplinary healthcare team. This team includes specialists such as pediatricians, neurologists, physical therapists, respiratory therapists, orthopedic specialists and cardiologists. A customized treatment plan is developed based on the individual needs of the patients.
Can DMD be Prevented?
Duchenne Muscular Dystrophy is a genetic disease and so far there is no way to completely prevent it. This is due to certain mutations in the DMD gene. These mutations prevent the body from producing a protein called Dystrophin, or cause it to produce it incompletely. The lack of the dystrophin protein leads to muscle cells becoming weak and dying, which causes the symptoms of the disease to appear and progress.
Promising research, such as genetic engineering and gene therapies, is underway to prevent or treat DMD. However, work in this area is still experimental and there are no widespread treatment options.
The key is to diagnose the disease early and provide appropriate treatment and support to manage symptoms. Early diagnosis and a treatment plan led by a multidisciplinary healthcare team can improve the patient's quality of life and slow the progression of symptoms. It is also important that carrier families receive genetic counseling and understand the risks.
Because it is caused by genetic factors, advanced scientific studies are needed to completely prevent or treat the disease. It is therefore important that individuals and families living with DMD receive the best care and support based on expert advice.