Duchenne Muscular Dystrophy (DMD) is a genetically based muscle disease. DMD disease accounts for about half of all muscle nerve disease cases in Turkey. DMD disease creates a chronic picture that gets progressively more severe over time. The quality of life of DMD patients can be improved by early diagnosis and by providing nutrition, physical therapy and special education to DMD patients. So what does DMD mean? What causes DMD, is there a cure? You can find the answers to all these questions in the following sections of the article.
What is DMD Disease?
DMD is a disorder that causes muscle degeneration and weakening due to changes in the dystrophin protein found in the muscle structure.
There are many proteins with different functions in the muscle structure. These proteins play a role in many different tasks, from the placement of the muscle to the fulfillment of functions such as contraction-relaxation. The dystrophin protein is also one of the proteins involved in muscle. The dystrophin protein binds the intracellular skeletal structure to the extracellular molecules in the muscle cell. Thus, it increases the strength of the muscle cell. In case of low amount of dystrophin protein or defective structure, muscle diseases called dystrophinopathy occur. In these diseases, the muscle weakens over time and loses its stiffness. Duchenne muscular muscular dystrophy is the most common disorder among the dystrophinopathy group diseases. Other diseases in this group; Becker Muscular Dystrophy (BMD), which is a milder form of DMD disease, is an intermediate group with clinical features between DMD and BMD, DMD-associated dilated cardiomyopathy.
What are DMD Disease Symptoms?
DMD disease occurs almost exclusively in men. Although rare, affected girls have been reported in the literature. DMD disease manifests in early childhood. The average age of onset of symptoms is 2-3 years. In BMD, which is a milder form of DMD, symptoms may not appear until puberty. DMD disease first affects the proximal muscles (arm, upper leg) that are close to the body. Muscles in the lower limbs are usually more affected than those in the upper limbs. Seen in children in the early stages of DMD, with lower limbs being affected Common symptoms are as follows:
- Difficulty in walking, climbing stairs, jumping
- Loss of walking ability
- Enlargement of the calf muscles
- Lack of motor skill development
- Fatigue
- Sudden onset, rapid deterioration in the muscles of the neck, arms, legs and hips
- Learning difficulties
DMD disease is inherited as X-linked recessive. The X chromosome is one of the sex chromosomes in humans. The genetic structure of women is 46, XX, while that of men is 46, XY. Therefore, women have two X chromosomes, while men have only one X chromosome. The development of DMD disease depends on the mutant of the dystrophin gene located on the X chromosome. In order for the disease to occur in women, both X chromosomes must have a mutant gene. However, mutant dystrophin gene on one X chromosome in males is sufficient for the disease to occur. Therefore, the disease is mostly seen in men. Women with a single mutant X chromosome, on the other hand, are carriers and are likely to have a son with DMD disease.
Can DMD Disease Be Treated?
DMD muscle disease is generalized by the family. First, it is noticed in cases such as the deterioration of the child's walking, the loss of motor skills that he had previously gained. When the doctor is consulted, the child is given a detailed motor examination. In children with DMD, features such as lack of coordination in motor examination and lagging in motor skills according to age can be detected. In order to definitively diagnose DMD, a blood test is done first. This assay looks at the levels of an enzyme called creatine kinase. In cases where the muscle is damaged, this enzyme leaks from the cells and mixes with the blood, and therefore its level is high in muscle diseases. The high creatine kinase value alone is not sufficient for the diagnosis of DMD. This level may also increase in other muscle diseases. Therefore, if the patient's creatine kinase level is high and the clinical picture is compatible with DMD disease, further examinations such as muscle biopsy and genetic testing are performed. Genetic testing, on the other hand, examines the patient's dystrophin gene for any mutations that could lead to DMD disease. According to the results of these tests, the patient can be diagnosed with DMD. There is no proven treatment for Duchenne Muscular Dystrophy. However, experts are working on various gene therapy applications for the mutant gene in disease development. The basic approach in the treatment of DMD disease is the later occurrence of complications that may occur due to the disease or the correction of already developed complications. Around the age of 12, he completely loses his ability to walk and has to use a wheelchair. Initiating muscle exercises early in order to enable patients to walk for longer periods of time contributes to the best possible condition of the muscles. Steroid treatment also helps to keep the muscle function at a high level for a longer time. As a result of weakening of the respiratory muscles, patients may have complaints such as pneumonia and respiratory distress. Respiratory support devices can be used in patients with severe respiratory distress. Muscle weakness that develops in the disease may also affect the heart. For this reason, children diagnosed with DMD Children should go to the cardiology department at least once a year until the age of 10. Again, since problems such as contracture development and scoliosis are common in DMD disease, DMD patients should be followed up by the orthopedics department. A special nutritional list is usually not required for DMD patients. However, special attention should be paid to the DMD patient taking adequate amounts of vitamin D. In patients receiving steroid therapy for muscle function, it is important to control weight and monitor malnutrition, taking into account physical inactivity. Inactivity and weakening of the abdominal muscles in DMD patients can lead to constipation. In order to prevent this situation, it would be beneficial to create a diet rich in fibrous foods.
How Long is the Life Time of DMD Disease?
In the past years, DMD patients were dying before they reached the age of 20. However, nowadays, the increase in information about the disease and the concern about complications that may develop due to the disease has extended this period. The life expectancy can reach up to 50 years of age in patients who are well cared for and regularly checked. In order to prolong the life of DMD patients and to increase the quality of life in the process, both hospital controls should be followed well, physical therapy should be given importance and a suitable life style should be established for the patient at home. It means that the weakness is caught in the initial stage. Patients who start both medical and physical therapy in the early period maintain their muscle functions at an optimal level for a longer period of time. For this reason, children who have problems such as muscle weakness and retardation in gaining motor skills should definitely be taken to a doctor.
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