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. Diseased muscle fibers eventually begin to lose their ability to contract, then gradually begin to disintegrate and connective and adipose tissue appears in their place.
The most common form of this disease is 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 ways that the patient can completely get rid of this disease. But still, there are many treatments that help to relieve the patient's 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 called a set of diseases that cause muscle atrophy. The main cause of this disease is the lack of a protein in the human body, which is 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 muscular dystrophy at the gene level. In the meantime, it is impossible to completely recover from this disease.
Muscle dystrophy, progressing, causes a gradual weakening of the muscles of the skeleton. Usually the disease is 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 is much more common than other species. Symptoms of this form of muscular dystrophy in a child usually appear before the age of three. Most often boys are ill. At the beginning of the disease, the muscles of the lower extremities and pelvis are affected, then located in the upper half of the body, and after that the disease passes to the rest of the muscle groups. There is a degeneration of muscle tissue and proliferation of connective tissue. The disease progresses rapidly. By the age of 12, the life of such children is connected with a wheelchair, and at 20-25 years of age, most of them die of respiratory failure.
- MuscularBecker's dystrophy. Doesn't occur very often. Symptoms are similar to the previous type of disease. The only difference is that the onset of the disease falls at a later date. In addition, it progresses more slowly. A sick person usually lives up to 45 years, maintaining a satisfactory condition for many years. A person becomes disabled only against the background of injuries or other concomitant diseases. This type of muscular dystrophy is more likely to affect 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 is 20 years old and up to 40. But there are times when very young children also get sick. The myotonic form of the disease can affect both men and women. A sick person cannot relax the muscles after their contraction. Initially, pathology can affect the muscles located on the neck and in the face, then move to other groups, such as limbs. Some of the symptoms may be arrhythmia, drowsiness and cataracts. This disease progresses rather slowly. A characteristic feature of this type of disease is that in addition to the skeletal muscles, those located on the internal organs are often affected, this includes the heart muscle.
- Innate. This type 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, very fast. hittingall 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 who are much older. The first symptoms of muscle weakness appear in the shoulders and face. In people with this pathology, the eyelids do not close until the end, so such patients often sleep with their eyes ajar. The lips are also poorly closed, which causes poor diction. When a sick person raises his hands, 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.
- Paropharyngeal muscle dystrophy. This type of muscle disease begins at a later age, after about 40 years and before 70. First, the muscles of the eyelids, face, throat, and then the pathology passes to the shoulders and pelvis.
- Muscular dystrophy of the limb girdle (Erba). Symptoms of this type of muscular dystrophy may appear in early childhood or in adolescence. First, changes occur in the shoulder and hip muscles. People who have this type of condition find it difficult to lift the front of their foot and often stumble because of this.
Symptoms of disease
The symptoms of muscular dystrophy in adults and children are basically the same. In patients, muscle tone is significantly reduced, skeletal muscle atrophy leads to impaired gait. Patients do not feel muscle pain, but the sensitivity in them is not impaired. Muscular dystrophy in a small patientleads to the fact that he loses the previously acquired skills when he was still he althy. 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 off, connective tissue appears, and as a result, the muscles increase in volume. The patient feels constantly tired, he has no physical strength at all.
In childhood, if the cause of the disease is genetic failures, various neurological disorders in behavior can occur, for example, attention deficit disorder, hyperactivity, a mild form of autism.
Below are the symptoms of Duchenne muscular dystrophy, as this form is the most common. They are very similar to the similar Becker's 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 should be highlighted:
- feeling of stiffness in the muscles;
- the patient has a waddling gait;
- difficult to run and jump;
- frequent falls occur;
- difficult to sit or stand;
- it is easier for the patient to walk on his toes;
- it is difficult for a child to teach anything, he cannot concentrate his attention on one thing, he starts talking later than he althy children.
Late symptoms:
- sickunable to walk independently;
- significantly reduced length of tendons and muscles;
- movements are further restricted;
- the patient is so difficult to breathe that he cannot do without medical attention;
- if the muscles do not have enough strength to hold the spine, it can be severely curved;
- Swallowing is so difficult for a patient that sometimes you have to use a special feeding tube to feed him, and sometimes this provokes the development of aspiration pneumonia;
- there is a weakening of the muscles of the heart, which often causes various heart diseases.
Cause of muscular dystrophy
Treatment works best when the cause of the illness is known. Medical research shows that muscular dystrophy is caused by mutations on the X chromosome, with each individual form of the disease having a different set of mutations. But, nevertheless, they all prevent the body from producing dystrophin, and without this protein, muscle tissue cannot recover.
Of the total amount of proteins that are present in striated muscle, only 0.002 percent is the protein dystrophin. But without it, the muscles cannot function normally. Dystrophin belongs to a very complex group of proteins that are responsible for the proper functioning of muscles. Protein holds the various components together inside the muscle cells and binds them to the outer membrane.
Whenthe absence or deformation of dystrophin, this process is disrupted. This leads to muscle weakness and destruction of muscle cells.
When diagnosed with Duchenne muscular dystrophy, there is a very small amount of dystrophin in the body of a sick person. 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 in other types of this muscle disease.
Disease diagnosis
Different methods are used to diagnose muscular dystrophy. The genetic mutations that cause this pathology are well known in medicine and are used to diagnose the disease.
The following methods of diagnostic examination are used in medical institutions:
- Genetic testing. The presence of genetic mutations indicates that the patient has muscular dystrophy.
- Enzymatic analysis. When muscles are damaged, creatine kinase (CK) is produced. If the patient does not have any other muscle damage, and the level of CK 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 in 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 the disease
Until now, scientific medicine has not yet come up with drugs that could completely cure the patient of such muscle pathology. Various treatments 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, drug treatment and physical therapy are used to combat such a disease.
Drugs
For the medical treatment of muscular 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 progression of the disease and increase muscle strength. But if used for a very long time, it can lead to weakening of the bones of the skeleton and significantly add weight to the patient.
- Heart drugs. 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 method involves performing special physical exercises to stretch and move the muscles. Such physical therapy gives the patient the opportunity to move for a longer time. InIn many cases, simple walking and swimming also help slow the progression of the disease.
Because the progression of the disease weakens the muscles needed for 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, a ventilator may be needed.
It is very difficult for a sick person to move around. In order to somehow help him in this, it is recommended to use canes, walkers, wheelchairs.
Orthoses are also used to slow the shortening of muscles and tendons and keep them stretched. In addition, such a device additionally supports the patient when moving.
Prevention of muscular dystrophy
The fact that a child will have Duchenne muscular dystrophy can be determined in our time even before the baby is born. Prenatal diagnosis of the disease is carried out as follows - amnoic fluid, fetal blood or cells are taken and a study is carried out for the presence of mutations in the genetic material.
If a family plans to have a child, but one of the relatives suffers from muscular dystrophy, then a woman must undergo an examination before planning a pregnancy. After him, it will become known whether she has such a pathology.
In women, the defective gene may appear due to changes in the hormonal background. Their causes may be pregnancy, the onset of menstruation, orclimax. If a mother has such a gene, then it is passed on to her son. At the age of 2-5 years, muscular dystrophy appears.
