Signs and treatment of Duchenne muscular dystrophy
Duchenne Muscular dystrophy – a hereditary disease that mainly find males. Girls get sick much less often: the cause of the disease in the mechanism of development. In this type of muscular dystrophy affects a gene located in the X chromosome. Women, unlike men, this chromosome is steam, so even if one of the chromosome pair undergoing change, the second one tries to compensate for a disturbance in the functioning of the body.
regarding the frequency of incidence, while some sources quote a figure of 0.025%, that is, the disease is found every 4000 of the child, but, according to statistics from the world health organization, with dystrophy of Duchenne is born one of the 3300 babies.
The causes of the disease are as follows. The x chromosome is a sex, consisting of many genes. For the appearance of disease sufficient to have been a single gene called dystrophin responsible for producing the body of the protein. This substance is responsible for the formation of a whole muscle in the human body. As a result of gene modification protein production compared to conventional a healthy body reduced several times.
How to diagnose the child has Duchenne syndrome
Pronounced symptoms in patients with this dystrophy manifests itself quite early, in early childhood, and the presence of symptoms is a reason to immediately seek medical attention.
The Diagnosis of muscular dystrophy Duchenne can be delivered before, literally in the first days of life of a newborn, you just need to do a blood test. If a child is sick, the test will show the multiple (30 or more) excess in the body levels of CPK (creatine phosphokinase).
If we talk about a little later the diagnosis, doctors may take a biopsy specimen tiny of muscle, which is subjected to microscopic examination. The patient's muscle tissue is altered at the cellular level.
In addition, the analysis shows the deposition of adipose tissue. The absence in one sample the protein dystrophin is a symptom of the disease.
In modern medicine to the biopsy as the method of analysis in muscular dystrophy are seldom used because there are DNA tests that allow much faster and more efficient diagnosis.
You Can also resort to muscle test, called electromyography. This test determines the speed with which nerve impulses are conducted to the muscles. If healthy children the pulses are processed instantly, sick children it is slow.
If you know that any of the parents is a carrier of muscular dystrophy, we can use a technique of prenatal diagnosis to determine whether sick with this disease a child in the womb. Prenatal test can be done not earlier than the 11th week of pregnancy.
First signs of Duchenne dystrophy
Early signs of this disease can be traced already in 1.5 years. Prior to this, parents can mark certain inactivity of the child, less motor activity than other children his age. Patients muscular dystrophy children start to walk later than normal. The child is very difficult to get up on its feet, trying to stand and walk without assistance ineffective.
When the baby begins to walk, he walks slowly, uncertainly, the distinctive "duck walk" waddling, which persists for life. When his peers are confidently walking, and even running around, a sick child often continues to fall when walking.
A Characteristic symptom of muscular dystrophy is that when standing up from the floor from a sitting position, the child puts his hands on his knees, holding the legs, and often can climb, just rolling over and getting up on all fours, but trying to stand up and take up also accompanied by support for the knees.
the Main symptoms of Duchenne muscular dystrophy,
The Symptoms are pronounced and as they grow the child's progress. Among them are the following:
- persistent fatigue;
- slow heavy gait, passing eventually to walk on her toes (caused by hypertonicity of the gastrocnemius muscles and the gradual loss of normal functions of knee joints);
- increasing deformation of the spine, different types of scoliosis;
- in a gradually increasing contraction of the muscles due to the disruption of the natural structure of muscle fibers and the appearance of fibrosis of muscle tissue;
- significant increase in language and calves of the legs due to the pathological changes (muscle tissue in these locations is replaced by adipose and connective);
- neurological abnormalities (dyslexia, autism, disordersmemorization)
- the different degrees of imbecility or mental retardation.
With age, increasing weakness of the muscles as they are modified, there is a false hypertrophy of individual muscle groups – the gastrocnemius and the femur, but the reason for this is not muscle growth, and transformation of muscle and replacing muscle tissue adipose and connective.
The Unraveling starts with the limbs, after the hands and feet, weakened muscles of the back, abdomen, etc. Over time, these phenomena are growing, a child's everyday needs is becoming less possible. Muscles lose their flexibility and elasticity and joints mobility. The child is becoming increasingly difficult to perform basic movements, he can't take the items and hold them in your hands. Begin to deform the joints: elbow, knee and hip.
with the gradual withering away of the muscles responsible for maintaining the spine, the spine is deformed first, then the child has great trouble walking. At the age of about 12 years this feature is completely quenched and the child transplanted into a wheelchair, he alone to move around.
due To chronic fatigue and neurological problems sick children experience problems in the learning process, they need to do individually.
People Live with Duchenne muscular dystrophy usually not longer than 30 years, averaging about 25. There are sporadic cases when patients lived to forty years or more. According to the results of observations, the duration of life in patients with this disease depends on the quality of care and timeliness of application of those or other methods of life support. The sooner appropriate care and treatment and the more effective and expensive are all taken measures, the longer the patient will live.
Treatment for Duchenne muscular dystrophy
Effective treatment of this disease is absent. This disease is not completely treated. Medicine unknown cases cure Duchenne dystrophy. In modern medicine are treated by conservative methods is palliative care, symptomatic and supportive, aimed at improving the lives of terminally ill child, the most possible relief of his suffering, both physical and psychological. The complex of therapeutic measures in this disease includes the following methods:
- drugs corticosteroids and β2-agonists
- therapeutic exercises, exercises;
- using orthopedic products.
The orthopedic surgeon after examination, may appoint a special orthopedic corsets to support the spine and tires, which will delay the occurrence of muscle contractures and prolong mobility. The importance of spinal exercises which should be dealt with only under medical supervision. At the first signs of fatigue with physical therapy have to stop. Exercises for each child, the doctor selects individually.
Until the child can walk, it is very important to go for a walk: walking is very useful not only for muscles, but also to support other functions of the body, particularly breathing. as the progression of the disease this feature may also have to maintain artificially. So, to prevent the stopping of breathing during sleep apply the ventilators.
Medication, unfortunately, can not slow the progression of the disease, but can help to alleviate the patient's condition, making symptoms less severe. Thus, corticosteroids help to replenish energy, β2-agonists supports muscle strength.
Otherwise, doctors recommend to maintain physical activity as much as possible time and condition of the patient. In addition to the walk, very useful lessons in the pool: while swimming reduces the load on muscles and joints, because water decreases body weight, improves blood circulation in the muscles. Therapeutic exercises should be combined with physiotherapy support procedures to extend the functionality of the muscles and joints, and progressive muscular dystrophy will be less apparent.
The Use of various orthopedic devices and accessories, from tires and couplers to wheelchairs and strollers, helps muscular dystrophy patients to provide some of their needs on their own and makes them more mobile. Bus are superimposed on the sleep time, to avoid unwanted joint mobility during this time. At the end of the disease for normal respiratory process require special tools, from respiratory masks to respirator.