The progressing muscular dystrophy of Dyushen

Description:

Muscular dystrophy of Dyushenn - the inherited progressing muscular dystrophy which is characterized by the beginning at early age, a symmetric atrophy of muscles in combination with cardiovascular, bone and joint and mental disturbances, a malignant current.

Symptoms of the Progressing muscular dystrophy of Dyushen:

The first symptoms of a disease are shown in 1-3 years of life by weakness of muscles of a pelvic girdle. On the 1st year lag of children in motor development attracts attention. They, as a rule, with a delay begin to sit down, to rise, go. The movements are awkward, when walking children are unstable, often stumble, fall. In 2-3 years muscular weakness, the pathological muscular fatigue which is shown at an exercise stress - long walking, rise on a ladder, change of gait as "duck" appear. During this period peculiar "stereotypic" dynamics of the movements of children attracts attention during a rising from horizontal position, from situation on cards or from a chair. The rising happens step by step to active use of hands - "a vzbiraniye a short flight of stairs" or "a vzbiraniye on itself". Atrophies of muscles are always symmetric. In the beginning they are localized in proximal groups of muscles of the lower extremities - muscles of a pelvic girdle, hips, and in 1-3 years quickly extend in the ascending direction to proximal groups of muscles of upper extremities - a shoulder girdle, back muscles. Owing to an atrophy the lordosis, "alate" shovels, a "aspen" waist appear. A typical, "classical" symptom of a disease is the pseudo-hypertrophy of gastrocnemius muscles. At a muscle palpation dense, are painless. Many patients as a result of the selection and uneven defeat of various groups of muscles early have muscular contractures and tendinous retractions. The muscle tone is lowered preferential in proximal groups of muscles. Deep reflexes change with various sequence. In early stages of a disease knee jerks, later - reflexes from two-headed and tricipital muscles disappear. Akhillova reflexes a long time remain safe.

One of distinctive features of a myodystrophy of Dyushenn is the combination of this form to pathology of bone and joint system and internals (cardiovascular and neuroendocrinal systems). Bone and joint disturbances are characterized by deformations of a backbone, feet, breasts. On roentgenograms find narrowing of the marrowy channel, thinning of a bast layer of a long diaphysis of tubular bones.

Cardiovascular frustration are clinically shown by lability of pulse, arterial pressure, sometimes dullness of tones and expansion of borders of heart. On an ECG changes of a myocardium are registered (blockade of legs of a ventriculonector, etc.). Neuroendocrinal disturbances occur almost at a half of patients. More often others the Icenco-Cushing syndrome, an adiposagenital syndrome of Babinsky-Frelikh are given. Intelligence at many patients in various degree (from easy moronity to a deficiency of intellect).

The current which is quickly progressing, malignant. By 7-10 years there are deep motive frustration the expressed gait change, is reduced an animal force, substantially limiting free, independent movement of patients. By 14-15 years there comes the obezdvizhennost.

The reasons for the Progressing muscular dystrophy of Dyushen:

It is inherited on the recessive, linked to X-chromosome type. The high-quality current of such myodystrophy has option of muscular dystrophy of Becker. The disease is described by Dyushenn in 1853.

Frequency 3,3 on 100 000 population, 14 on 100 000 been born. In most cases boys are ill. Cases at girls are extremely rare, though are possible at a karyotype of HO and at structural anomalies of chromosomes (Hr21.2, a gene of DMD of a distrofin).

Treatment of the Progressing muscular dystrophy of Dyushen:

Treatment is directed to maintenance of physical activity of the patient and improvement of quality of his life. Use pro-call allows patients to move and zameldlyat formation of scoliosis. Gene therapy (genes of a distrofin and an utrofin) is developed. Symptomatic treatment.

In the presence of contractures and fixing of joints orthopedic intervention is shown.

Medicinal therapy: Prednisolonum on 0,75 mg/kg/days increases muscle bulk at the boys having muscular dystrophy of Dyushenn, slowing down progressing of a disease.

The current which is quickly progressing. Considerable motive frustration ravivatsya by second decade of life and limit independent movement of patients. Death comes on the second or third decade of life usually from pneumonia.

Prevention consists in genetic consultation of parents.