Duchenne SYNDROME
Disease information
Duchenne SYNDROME
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.
Related Products