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Muscular dystrophy is an inherited degenerative disease of muscle tissue. There are several types of dystrophy, and their symptoms differ from each other depending on the area affected by the pathological changes and the rate of progression of the disease. What are the types of muscular dystrophies and their symptoms?

Muscular dystrophyisa hereditary muscle diseasewhose characteristicsymptomsis muscle weakness. The essence of dystrophy is the degeneration of muscles as a result of a genetic defect, and in some cases even their atrophy, i.e. atrophy. In most cases of muscular dystrophy, the fibers of the muscles become split. As a consequence, the number of these fibers is reduced, and in their place, connective and adipose tissues appear. Some types of muscular dystrophy can affect the heart muscle.

There are several types of muscular dystrophies depending on the age of the dystrophies, which parts of the body affect and how the disease proceeds.

Duchenne Dystrophy (DMD)

Duchenne dystrophyis the most commonly diagnosed type of muscular dystrophy. It is diagnosed in approximately 13-33 out of 100,000. born boys. The first symptoms of this rapidly progressing disease usually appear between the ages of 2 and 6 for boys:

  • difficulty walking and running,
  • Gowers symptom,
  • the torso compensates towards the supporting leg (Duchenn symptom),
  • characteristic duck gait,
  • atrophy of shoulder muscles (symptom of loose shoulders).

People with Duchenne dystrophy generally die before the age of 30.

Becker's muscular dystrophy

Symptoms of Becker's dystrophy typically appear between the ages of 5 and 25 and are generally the same as in DMD.

However, in this case, they are much less intense, and muscle degradation is slower. Characteristic of Becker's dystrophy is the appearing weakness and progressive atrophy of the pelvic girdle muscles and then of the pectoral muscles.

Limb-girdle muscular dystrophy

The first symptoms appear in the first, second or third decade of life. The risk of disease is the same withgirls and boys.

Degradation most often affects the proximal muscles of the pelvic and shoulder girdles. There may also be a deepening of the lumbar lordosis and the protrusion of the shoulder blades.

Hypertrophy and contractures are rare. Some patients may develop changes in the myocardium - most often dilated cardiomyopathies.

The course of the disease is variable, when the disease is slow, patients have the opportunity to achieve a normal life expectancy.

Facial-scapulo-brachial muscular dystrophy

The first symptoms of the disease usually appear in the early years of life, less often after the patient's 20 years of age.

Symptoms that may appear equally in boys and girls relate to dystrophy of the muscles of the face and shoulder girdle. Then the following appear:

  • facial immobility (facial movements are weakened, patients have difficulty closing the eyelids),
  • overgrown lips,
  • problems with raising the arms above the head,
  • shoulder forward.

The course of the disease is usually mild and slow.

Fukuyama Congenital Muscular Dystrophy

This form of muscular dystrophy is especially common in the Japanese population. The disease is caused by a mutation in the gene encoding a protein - fucutin. Its symptoms are very similar to those of DMD.

Myotonic muscular dystrophy (Steiner litter)

Myotonic muscular dystrophy (Steiner's myotonia) - the first symptoms of the disease most often appear between the ages of 20 and 35, both for boys and girls.

The most common symptoms of the disease are:

  • myotonia, i.e. delayed muscle relaxation after contraction and weakening of the facial muscles,
  • weakness of the hands, feet and sternoclavicular-thoracic muscles,
  • cataracts and ptosis, which are associated with the involvement of smooth muscles, glands, internal secretions and eyes.

Thomsen's inborn litter

Thomsen's disease is a very rare genetically determined muscle disease characterized by difficulty in movement after prolonged rest as a consequence of prolonged muscle contraction followed by slow relaxation.

Disease symptoms:

  • the sick person cannot straighten his fingers quickly after clenching his hand - slow straightening after a while is characteristic,
  • after squeezing the eyelids, the patient cannot open them for some time,
  • after opening the mouth (e.g. after a yawn), the patient has his mouth open for some time,
  • it is difficult to change the position (the patient is not able to perform the first step aftergetting out of bed, chair).

Ocular or oropharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) usually occurs after the age of 50). The disease affects the oculomotor muscles, sometimes also the swallowing muscles, which manifests itself as:

  • slowly increasing ptosis,
  • swallowing disorder,
  • paresis of the limb muscles.

Distal muscular dystrophy

Distal dystrophyis the rarest muscular dystrophy disease characterized by weakness and damage to the muscles in the arms, hands, legs, and feet.

Therefore, the symptoms of the disease are weakness and destruction of only the muscles of the limbs.

The disease usually develops very slowly from childhood to adulthood.

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Category:

Genetic diseases