Myopathy: symptoms and treatment

Myopathy is a congenital pathology caused by certain mutations in the genes. The mechanism of the development of the disease is not fully understood, therefore doctors can not pinpoint when a sick child can be born. It also happens that a completely healthy father and mother may have a child with any form of myopathy. In general, the disease is associated with impaired metabolic processes in the muscle tissues, which, because of this, lose creatine, which leads to their dystrophy.



Species

With such a disease as myopathy, the muscular structures of the shoulder girdle and pelvic tend to suffer. But other muscles can also be affected, therefore, depending on the severity of the symptoms, several forms of the disease are distinguished.

The most common form is Duchenne’s myopathy . In another way, this form of pathology is called pseudohypertrophic, as it is inherent in the increase in muscle mass due to the accumulation of fat, which causes the muscles to become large, but weak. Duchenne myopathy is the most malignant form of pathology — it is characterized by rapid course and severe consequences. Most patients with Duchesne atrophy become disabled and even die due to respiratory or heart failure. It must be said that Duchesne’s myopathy manifests itself in the first years of life, and mostly boys are ill with it. In addition, the earlier it starts, the harder the pathology.

The second form is also no less common — it is Erb’s myopathy or a juvenile form of pathology. The disease develops in men and women aged 20-30 years, and manifests itself atrophy of the hip and pelvic muscles. Patients have a «duck» gait, develops atrophy of the muscles of the mouth, which is characterized by the inability to fold the lips with a tube and whistle, which also causes a violation of the pronunciation of certain sounds. The early onset of the disease leads to immobility and disability, but if the disease begins later, its course is less aggressive.

Another common form is Becker’s myopathy . It is considered to be the lightest pathology of all the varieties. It begins in young people at the age of 20 years, manifests hypertrophy of gastrocnemius muscles. Psychiatric abnormalities with this form is not.

The next form of pathology is humeroscapular facial . Both men and women suffer from this variety, and the disease manifests itself at the age of 10 to 20 years. The initial symptom of the disease is the weakness of the facial muscles, after which the atrophy extends to the muscles of the shoulder girdle, with the defeat of the scapula. With this disease, the muscles of the mouth and eyes are affected, which leads to their hypertrophy. Very rarely the process reaches the pelvic girdle. The course of this version of myopathy is slow, so for a long time patients can maintain mobility and efficiency. The later the disease begins, the easier it is, and disability in most cases does not develop with this form.

There is also a kind of disease, like myopathy of the eye . Most often due to the defeat of the eye muscles, a person develops myopia and this is the main and only symptom of this pathology. Other disorders in myopathy of the eye is not found, so you can consider this form of the disease the easiest.

In medical practice, there are some other varieties of myopathies, for example, distal, filamentous, mitochondrial, myopathy of Oppenheim. These forms of the disease are less common and have no pronounced manifestations, so they are often not even diagnosed.

As already mentioned above, the causes of the disease are in gene mutations, and scientists have not been able to figure out why these mutations arise. A unified opinion — myopathy develops as a result of metabolic disturbances in muscle tissues.

Symptoms

Of course, the main symptom of the disease is weakness and subsequent muscle atrophy of the body. However, each type of pathology has its own typical symptoms, which allow doctors to establish the correct diagnosis.

The general symptoms of myopathy, inherent in each form of the disease, are as follows:


  • increased fatigue;
  • pain in those muscles that are affected;
  • decreased or, conversely, increased joint mobility;
  • sensation of «aching» in the muscles, as in colds;
  • Decreased muscle strength.

Other symptoms of the disease are typical for certain species. Thus, Erba’s myopathy is characterized by:


  1. muscular dystrophy of the hips;
  2. atrophy of the back muscles and curvature of the spine
  3. appearance of the «wasp» of the waist
  4. the appearance of a «duck» gait;
  5. muscle atrophy around the mouth.

Duchenne myopathy has its own characteristic symptoms, among which are:





  • proliferation of adipose tissue on gastrocnemius muscles, which is why they increase in size
  • the inability to stand up yourself when the patient is sitting on the floor
  • dystrophy and complete impairment of the functions of all the muscles of the body
  • joint deformation;
  • atrophy of the heart and respiratory muscles with the development of respiratory or heart failure

As mentioned above, Duchesne’s myopathy is the most severe form of pathology.

Becker’s myopathy is characterized by symptoms such as:


  1. fatigue and fatigue in the legs
  2. changing the appearance of the feet
  3. atrophic muscles of the pelvic girdle.

In muscular dystrophy of the brachium-facial lipectomy, lip hypertrophy, impairment of sound, atrophy of the eye muscles are noted, because of which a person can not close them, the facial expressions change.

The mild form of this pathology, myopathy of the eye, is characterized only by changes in the eye muscles, which leads to visual impairment and difficulties with closing and opening of the eyes.

Diagnosis and treatment

Such a disease, as myopathy, requires careful diagnosis, because the treatment of pathology does not allow to eliminate it, and is aimed only at supporting the health of a sick person. Therefore, the earlier a diagnosis is made, the more likely it is to improve the patient’s quality of life.

The diagnosis of the disease is based on the analysis of blood, the collection of muscle fibers on a biopsy and their research, as well as on the conduct of a study such as an electromyogram. In some cases, the diagnosis can be made only when conducting molecular genetic analysis.

Treatment of myopathy does not allow completely cure the disease. Doctors have not yet developed a technique to stop the development of atrophy. Therefore, the treatment of myopathy is based on the removal of symptoms of the disease. The main drugs that are used when there is muscular dystrophy, are anabolic hormones. For maintenance of immunity vitamins are appointed, and also reception of ATP and anticholinesterase agents is shown.




In addition, such a disease as muscular dystrophy is treated, with the help of physiotherapy exercises and physiotherapy procedures. True, such methods are unable to save a person from a disease, but can only reduce the severity of manifestations. Proper nutrition with myopathy is extremely important — it allows the body to obtain the necessary substances in the required amount, which slows the process of muscle fibers atrophy and improves the patient’s quality of life.