Disease information

Duchenne SYNDROME - HIPERnatural.COM
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He is most serious of the muscular dystrophies and is caused by the absence in the muscular cells of a called protein distrofina.

Its cause is genetic and it must to the lack or mutation of a gene in the chromosome X that transmitted by the mother and that is in charge to issue the orders to the muscular cells to produce the distrofina protein, that normally is inside the membrane that surrounds each muscular fiber and whose function is to cause that they work suitably.

Normally, the damaged fibers are replaced by cellular regeneration during the first years of the disease, but this has a limit and the degeneration surpasses the conditions of regeneration.

It affects the men who generally inherit the gene of their mother and can initiate between the 2 and 6 years of age and their incidence it is of one between each 5. 000 born children. The inheritance of the damaged gene nevertheless comes from the father who inherits to some of his daughters or children.

This hereditary process is a little complex, but it has been identified that:

Only the women are carrying of the damaged gene and can inherit it to the children men.

Only the affected men, can inherit it to their daughters.

Only the men present / display the symptoms of the disease, and are very rare the women who present / display them.

the probabilities that a carrying woman, has a son affected man or a carrying daughter, is of 50% percent.

Approximately a 30% percent of the cases, the disease are not inherited by the mother, but who must to a mutation of the gene in the affected man.

He attacks the men sometimes who inherit gene of their mothers and affects progressive, slowly and per periods he advances quickly, mainly the torso and the muscles of the extremities, reason why to short age, the children must use wheelchair to be transported.

The gravity of this disease is in which the pectoral muscles are debilitated of such form which they produce respiratory insufficiency or pulmonía burdens, which generally and between the 20 and 30 years, takes them to the death.

The advance of the disease is different in each boy, with the help of ortopédicos apparatuses and therapy can walk a little more, nevertheless the average to let do it and to use wheelchair is of 12 years.

IMPORTANT: The content of this note is informative and it does not replace the medical diagnosis, reason why we do not become people in charge on its use.

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