Muscular dystrophy is a disease of the muscles (most often skeletal), which is chronic. The disease is characterized by muscle degeneration, which manifests itself in a decrease in the thickness of muscle fibers and increasing muscle weakness. Sick muscle fibers begin to lose their ability to contract over time, then gradually begin to disintegrate, and connective and adipose tissue appear in their place.
Most often there is such a form of this ailment as Duchenne muscular dystrophy. Symptoms of this disease can be observed in boys, but sometimes they occur in adults.
To date, medicine has not yet found such methods so that the patient can completely get rid of this disease. But still, there are many treatment methods that help alleviate the symptoms of muscular dystrophy, as well as significantly slow down the development of the disease.
Some information about the disease
Muscular dystrophy in medicine is a set of diseases that cause muscle atrophy. The main reason for this disease is the lack of a protein in the human body called dystrophin. One of the most common types of this disease is Duchenne muscular dystrophy.
Currently, medical scientists are conducting various tests to create a way to combat muscle dystrophy at the gene level. In the meantime, it is impossible to completely recover from this ailment.
Muscle dystrophy, progressing, causes a gradual weakening of the skeletal muscles. The disease is usually diagnosed in males. According to statistics, 1 person out of 5 thousand has such a pathology.
The disease is transmitted at the genetic level, therefore, if one of the parents has such an ailment, then it is very likely that the symptoms of muscular dystrophy in children will also appear.
Types of muscular dystrophy
There are several varieties of this disease. These include:
- Duchenne muscular dystrophy. It occurs much more often than other species. Symptoms of this form of muscular dystrophy in a child usually appear before the age of three. Most often, boys get sick. At the beginning of the disease, the muscles of the lower extremities and pelvis are damaged, then located in the upper half of the body, and then the disease passes to the remaining muscle groups. Muscle tissue degeneration and proliferation of connective tissue occur. The disease progresses rapidly. By the age of 12, the lives of such children are connected with a wheelchair, and at the age of 20-25 most of them die from respiratory failure.
- Becker muscular dystrophy. It is not very common. Symptoms are similar to the previous type of ailment. The only difference is that the onset of the disease falls on later dates. In addition, it progresses more slowly. A sick person usually survives to 45 years, for many years maintaining a satisfactory condition. A person becomes disabled only against the background of injuries or other concomitant diseases. This type of muscular dystrophy is often affected by people of small stature.
- Myotonic form (Steinter's disease). The initial symptoms of this form are diagnosed in adults, most often this happens when a person turns 20 years old and up to 40. But there are times when very young children get sick. The myotonic form of the disease can affect both men and women. A sick person cannot relax the muscles after they contract. At first, the pathology can affect the muscles located on the neck and in the face, then go to other groups, for example, limbs. Arrhythmia, drowsiness, and cataracts may be some of the symptoms. Such a disease progresses rather slowly. A characteristic feature of this type of disease is that in addition to skeletal muscles, those located on the internal organs are often affected, including the heart muscle.
- Congenital This kind of disease is observed from birth or until the baby reaches the age of two. It occurs in both boys and girls. The progression of some forms can be slow, while others, on the contrary, can be very fast. Hitting all new muscles, they cause noticeable changes in them.
- Shoulder-scapular-facial. It often appears in adolescence (10-15 years), but can also be diagnosed in people significantly older. The first symptoms of muscle weakness appear in the shoulders and face. In people with such a pathology, the eyelids do not close to the end, so such patients often sleep with their eyes ajar. Lips also close poorly, which causes poor diction. When a sick person raises his arms, the shoulder blades protrude to the sides, resembling wings. The disease of this form is characterized by a slow course, so a person can remain able to work for a long time.
- Near-pharyngeal muscle dystrophy. This type of muscle disease begins at a later age, after about 40 years and up to 70. First, the muscles of the eyelids, face, and throat are affected, and then the pathology passes to the shoulders and pelvis.
- Muscular dystrophy of the limb belt (Erba). Symptoms of this type of muscular dystrophy can appear in early childhood or in adolescents. Initially, changes occur in the brachial and femoral muscles. It is difficult for people who have this type of disease to raise the forefoot, because of this they often stumble.
Symptoms of the disease
Symptoms of muscular dystrophy in adults and children, basically, have the same manifestations. In patients, muscle tone is significantly reduced, skeletal muscle atrophy leads to impaired gait. Patients do not feel muscle pain, but their sensitivity is not impaired. Muscular dystrophy in a small patient leads to the fact that he loses his previously acquired skills when he was still healthy. A sick child stops walking and sitting, cannot hold his head, and much more.
The disease is constantly progressing, in place of the muscle fibers that die, connective tissue appears, and as a result, the muscles increase in volume. The patient feels constantly tired, he completely lacks physical strength.
In childhood, if the cause of the disease is due to genetic malfunctions, various neurological disorders in behavior can occur, for example, attention deficit disorder, hyperactivity disorder, mild autism.
The following are symptoms of Duchenne muscular dystrophy, as this form is the most common. They are very similar to a similar Becker disease, the only difference is that this form begins no earlier than 20-25 years, proceeds more gently and progresses more slowly.
Early and late symptoms
Among the early symptoms of muscular dystrophy are:
- a feeling of stiffness in the muscles;
- the patient has a waddling gait;
- difficult to run and jump;
- frequent falls occur;
- it is difficult to be in a sitting or standing position;
- it’s easier for the patient to walk on his fingers;
- it’s difficult for a child to teach anything, he cannot concentrate his attention on one thing, begins to speak later than healthy children.
Late symptoms:
- the patient cannot independently move on his feet;
- significantly reduced length of tendons and muscles;
- further restriction of movements occurs;
- the patient is so difficult to breathe that he can not do without medical care;
- if the muscles do not have enough strength to hold the spine, a strong curvature may occur;
- the patient is so hard to swallow that sometimes, in order to feed him, he has to use a special feeding tube, and sometimes it provokes the development of aspiration pneumonia;
- the weakening of the muscles of the heart occurs, which often causes various heart diseases.
The cause of the disease muscular dystrophy
Treatment gives better results when the causes of the disease are known. Medical studies show that muscular dystrophy is provoked by mutations on the X chromosome, and each individual form of the disease has a different set of mutations. But, nevertheless, they all do not allow the body to produce dystrophin, and without this protein muscle tissue can not be restored.
Of the total amount of proteins that are present in striated muscle, dystrophin is only 0.002 percent. But without it, muscles cannot function normally. Dystrophin belongs to a very complex group of proteins that are responsible for the proper functioning of muscles. Thanks to the protein, the various components inside the muscle cells are bonded together, and the protein binds them to the outer membrane.
In the absence or deformation of dystrophin, this process is disrupted. This leads to muscle weakness and muscle cell destruction.
With a diagnosis of Duchenne muscular dystrophy, dystrophin in the body of a sick person is very small. And the smaller it is, the more severe the symptoms and course of the disease. Also, a significant decrease in the amount of dystrophin is observed with other types of this muscle ailment.
Diagnosis of the disease
Different methods are used to diagnose muscular dystrophy. Genetic mutations that cause this pathology are well known in medicine, they are used to diagnose the disease.
The following diagnostic diagnostic methods are used in medical institutions:
- Genetic testing. The presence of genetic mutations indicates that the patient has muscular dystrophy.
- Enzyme analysis. When muscle damage occurs, creatine kinases (CC) are produced. If the patient does not have any other muscle injuries, and the level of QC is elevated, then this may indicate a disease of muscular dystrophy.
- Cardiac monitoring. Studies using an electrocardiograph and an echocardiograph will help detect changes in the muscles of the heart. Such diagnostic methods are good at determining myotonic muscular dystrophy.
- Biopsy. This is a diagnostic method in which a piece of muscle tissue is separated and examined under a microscope.
- Lung monitoring. The way the lungs perform their function can also indicate the presence of pathology in the muscles.
- Electromyography. A special needle is inserted into the muscle and electrical activity is measured. The results show whether there are signs of muscular dystrophy syndrome.
How to treat a disease
Until now, scientific medicine has not yet come up with drugs that could completely cure the patient from such muscle pathology. Various treatment methods can only support a person's motor functions and slow down the progression of the disease for as long as possible. In adults and children, muscular dystrophy, symptoms and treatment are determined by the doctor. As a rule, medication and physiotherapy are used to combat such a disease.
Medications
For drug treatment of muscle dystrophy in a child, as well as in an adult, two groups of drugs are used:
- Corticosteroids. Medicines in this group help slow down the development of the disease and increase muscle strength. But if you use them for a very long time, this can lead to weakening of the bones of the skeleton and significantly increase the patient’s weight.
- Heart medications. They are used when the disease adversely affects the normal functioning of the heart. These are drugs such as angiotensin-converting enzyme inhibitors and beta-blockers.
Physiotherapy
This treatment includes the implementation of special physical exercises for stretching and muscle movement. Such physiotherapy exercises give the patient the opportunity to move around for a longer time. In many cases, walking and swimming also helps to slow down the development of the disease.
Since the progression of the disease leads to a weakening of the muscles that are needed during breathing, the patient may need respiratory assistance. For this, special devices are used to help improve oxygen delivery at night. In the later stages of the disease, an artificial respiration apparatus may be needed.
It is very difficult for a sick person to move around. To at least somehow help him in this, it is recommended to use canes, walkers, and wheelchairs.
Orthoses are also used to slow down the shortening of muscles and tendons and keep them stretched. In addition, this device additionally supports the patient when moving.
Prevention of muscular dystrophy
The fact that a child will be sick with Duchenne muscular dystrophy, in our time, can be determined even before the baby is born. Prenatal diagnosis of the disease is carried out as follows - amnoid fluid, fetal blood or its cells are taken and a study is carried out for the presence of mutations in the genetic material.
If the family plans to have a baby, but one of the relatives has muscular dystrophy, then the woman must be examined before planning a pregnancy. After him, it will become known whether she has such a pathology.
In women, a defective gene may appear due to changes in the hormonal background. Their causes may be pregnancy, the onset of menstruation or menopause. If the mother has such a gene, then it is passed on to her son. At the age of 2-5 years, muscular dystrophy appears.