Duchenne myopathy: photos, causes, symptoms, diagnosis, treatment and prevention

One of the most formidable primary muscular dystrophies that begins in early childhood and leads to death before reaching the age of 25 is Duchenne's myopathy( full name is Duchenne's progressive muscular dystrophy).

Brief description of Duchenne myopathy

The disease was first described in 1868 by Duchenne and is genetic. And Duchenne's myopathy has a common, genetically uniform form with Becker's myopathy, but it has a number of clinical signs.

Usually patients do not survive even before the age of 30( according to some data, and do many die at the age of 20-22 years).

The process of muscle malnutrition is characterized by an upward character:

• The muscles of the pelvic girdle, as well as the muscles of the proximal legs( lower extremities),
• are first involved in the process. Then the muscles of the back and shoulder girdle,
• , then turn to the proximal parts of the hands( upper limbs).

Already at the very beginning of the disease, knee reflexes fade or decrease significantly, with the tendon reflexes of the hands and the Achilles reflex remaining for a very long time.

Other signs of this disease:

• Progression of kyphosis, lordosis or other secondary deformities of the spine,
• Corrugation of the thorax( it becomes keel or saddle), stop,
• Tendon retractions develop against contracture in the joints.
• Very often, with Duchenne myopathy, there are heart problems, namely cardiomyopathy, the symptoms of which are arrhythmia and left ventricular hypertrophy.
• Although the intellect usually does not suffer from myopathies, in this case, 25-30% of patients have oligophrenia( namely, the degree of debility).The remaining patients retain their intellect.

The prognosis of the disease is unfavorable - Duchesne's myodystrophy is rapidly progressing, patients lose their ability to walk independently after 10-12 years, and die at a young age due to intercurrent infections( respiratory failure) or heart failure.

Photo of Duchenne myopathy:

Causes of

Duchene myopathy is a hereditary disease, with the carriers of his gene being female. This myopathy is inherited from the recessive type linked to the X chromosome. Moreover, about a third of all cases of Duchenne myopathy are caused by new gene mutations. Only boys are ill.

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Symptoms of the disease

The disease begins to manifest itself at the age of 1,5-5 years, its first signs are:

• Instability, motor awkwardness.
• Constant stumbling and falling during walking, which develops a child's fear of walking, which causes motor passivity.
• The child is difficult to climb the stairs, and the gait becomes waddling, "duck".
• It is also difficult to climb from a prone position or sitting - the child resorts to the so-called "Grover's methods" - this is "self-climbing" and "climbing ladder".
• A vivid sign of Duchenne's myopathy is an imaginary hypertrophy of the muscles, especially the gastrocnemius: in fact, the muscles do not develop, but their degeneration into adipose tissue and connective tissue.
• As already mentioned, one of the symptoms of Duchenne myopathy is heart damage, which, according to foreign researchers, is caused by a deficiency in dystrophin cardiomyocytes.
• There are signs of myopathy in the biopsy specimens of the skeletal muscles.
• Over time, as the progression of muscular dystrophy develops contractures of large joints, there is an equinovarus deformation of the foot.
• Closer to 10-12 years the child can no longer move independently and is forced to use a wheelchair.
• By the age of 15, a deep invalidization of the patient develops.

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Diagnosis

Diagnosis of Duchesne miodistrophy is based on the following inspection results and analyzes:

1. The ECG reveals myocardial lesion of the lateral and posterior-bottom walls of the left ventricle, which is determined by the following indicators: a high prong is observed in V6 lead;deep Q tooth is observed in leads V6, aVF, 2 and 3.
2. The content of dystrophin in muscle tissue is also investigated( this disease does not reveal dystrophy).
3. In the course of biochemical studies in the blood plasma, the activity of CKK( creatine phosphokinase enzyme) is determined, which is usually significantly increased( including in the carriers of the gene).Sometimes, to clarify the source, isoenzymes of CK are investigated.
4. Genodiagnostics is also performed.
5. Fibrillations on EMG report necrosis of muscle fibers.
6. Muscle biopsy is one of the main methods of diagnosis of Duchenne myopathy, and moderately affected muscle is selected, since a very weakened and significantly damaged muscle will prove to be uninformative.

Duchene myopathy treatment

In such a severe and rapidly progressing disease, treatment is ineffective, usually the following drugs are used in complex maintenance therapy:

1. Group of drugs that improve metabolism in the body: B vitamins, E, amino acids, calcium preparations, anabolic hormones, potassium orotate.
2. Treatment with proserin, galantamine, oxazil is used.
3. Treatment is carried out by courses and, preferably, in a hospital: exercise therapy( especially slowing the formation of contractures), as well as passive stretching of diseased muscles, massage, electrophoresis of proserine, lidase, calcium chloride, bath, inductothermy. The course of treatment is repeated every 6-8 weeks, and immobile children are preferable to treat at home.
4. Last years the treatment with glucocorticoids( according to the scheme every other day) became popular, which prolongs life for several more years.

Patient Duchenne myopathy must be observed with a cardiologist.

Separately, it is worth noting the importance of nutrition, in which must necessarily be present vegetable fats and proteins of animal origin. It is necessary to avoid strong tea, coffee, alcohol, spices, sugar, cabbage and potatoes. The diet should include fresh or cooked vegetables, fruits, sour-milk products, oatmeal, eggs, honey, carrots, nuts.

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Prevention

Prevention of the disease is difficult due to the genetic causes of its occurrence, which is why genetic counseling of those families in which burdened heredity is revealed plays a particularly important role.

The newest methods and developments of molecular genetics help to reliably determine the nature of gene mutation, "calculate" the prognosis of his disease, but most importantly - these methods allow perinatal examination in case of repeated pregnancy.