Rhett's syndrome

Emergence genetic pathologists at children, as a rule, becomes perfect surprise for the parents who do not have such deviations in health. At the same time only some of similar diseases have hereditary character. Most of them including Rhett's syndrome, arise owing to chance mutation of parent genes. This inborn progressing disease occurs preferential at girls. It has a characteristic clinical picture which allows to reveal this pathology without problems.

Rhett's syndrome, symptoms

Feature of a syndrome of Rhett is that in the first months of life the child develops according to age. Of course, perhaps some lag in formation of psychomotor skills that seldom leads to concern of parents or doctors. However from fifth month of life there are pathological symptoms which gradually accrue.

The clinical picture of a syndrome of Rhett changes depending on a stage of this disease, them is allocated all four. At first at the child the monthly gain of a circle of the head is slowed down, psychomotor development practically stops, the muscles tone decreases. The following stage, more pronounced, begins on the second year of life. The child becomes very uneasy, sleeps badly, ceases to communicate with people around. Loss of all skills acquired earlier, both motor, and speech, and also emergence of a peculiar automatism in the form of "washing of hands" becomes the most important diagnostic character of a disease.

On the fourth year of life, in the third stage of a syndrome of Rhett, the child has signs of sharp decrease in I.Q. Also convulsive attacks and fluctuations of a muscle tone are noted. Approximately by ten years the disease passes into the fourth stage which is characterized by the progressing motility disturbance. There are problems with coordination of movements. Muscles atrophy, it leads to a rachiocampsis and a growth inhibition of the child. In hard cases there comes severe exhaustion and loss of a possibility of independent movement.

Rhett's syndrome, reasons

Development of a disease is caused by a mutation of genes in X-chromosome. Rhett's syndrome can be both hereditary, and, most often, spontaneously arisen pathology. Specific localization of the changed genes in a so-called "female" chromosome promotes that the disease is diagnosed generally at girls. Development of a syndrome of Rhett in boys is noted very seldom as they receive from parents two various chromosomes – X and Y.

If the mutation of genes occurred at the father, male children in such family are born without pathology. Receiving the changed chromosome from mother, boys can die, still being in its organism or in the first months of life. At the same time they do not manage to reach that age when the first symptoms of a disease begin to arise. In rare instances of survival Rhett's syndrome at boys is shown practically by the same symptoms, as at girls.

Rhett's syndrome, treatment

The modern medicine is powerless before genetic pathology. Not an exception is also the syndrome of Rhett which treatment is directed, first of all, to symptomatology, but not to a cause of illness. The choice of therapeutic means depends on the prevailing symptoms of an illness at each its stage. So, for decrease in concern, improvements of a dream and stopping of attacks are applied calming and anticonvulsants.

Emergence of symptoms of muscular dystrophy demands purpose of a diet with the increased caloric content. It promotes preservation of body weight which inevitably decreases in process of development of a disease. At Rhett's syndrome treatment surely includes also occupations physiotherapy exercises that allows to support muscles in a normal tone and to keep a physical activity.

The disturbance of contact of the child with the world around caused by sharp decrease in its intellectual opportunities can be a little maleficiated by means of special psychological programs. They promote not only to development of some abilities to communication, but also formation of the minimum skills of self-service that at Rhett's syndrome very important.

Genetic diseases differ in weight and irreversibility of the effects which can be shown in disturbance of many functions of an organism. Among the main symptoms of such pathology as Rhett's syndrome, it is possible to note considerable decrease in mental capacities of the child, and also restriction of its athletic ability. All this, in total, often results in need of permanent care of such patient. However special medical influence allows to adapt several the child to the world around.