Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness caused by the absence of the protein dystrophin. DMD affects 1 in 5,000 boys worldwide and causes increasing loss of mobility in childhood through adolescence, eventually requiring full-time wheelchair use and respiratory assistance. While there is no cure for DMD, treatment aims to reduce symptoms and improve quality of life through a multidisciplinary team including specialist doctors and therapists. The disease is inherited through an affected gene on the X chromosome, so it primarily affects boys and men.

1. duchenne
muscular
dystrophy
Inés Vivas, 4C

2. ¿WHAT IT IS?
Duchenne Muscular Dystrophy (DMD) is the most common muscular
dystrophy diagnosed during childhood. It significantly limits the years
of life of those affected. It affects 1 in 5,000 children in the world
It is a progressive disorder of the muscle that causes
the loss of its function and therefore those affected
end up losing their independence completely. The
disease is caused by a mutation in the gene that
codes for dystrophin. Because dystrophin is absent,
muscle cells are easily damaged. Progressive muscle
weakness leads to serious medical problems

3. symptoms

4. treatment
There is no cure for Duchenne muscular dystrophy
(DMD), there are some accepted treatments that can
reduce symptoms and improve quality of life.
Duchenne muscular dystrophy requires, for its care, a
multidisciplinary team of specialist doctors and therapists:
Keep in mind that all Duchenne's are different and
not all people will have to see all of these specialists.

5. stages and development of the disease
Duchenne can be diagnosed from the
first months of life to 4 or 5 years
.From that moment, the affected
person may experience some
improvement until later on, they
begin to experience physical decline.

6. infant
it takes time to sit, walk and talk
early childhood
Walks swaying, on
tiptoe, and falls
frequently. Has
trouble following
other children his
age.
standing, walking,
or climbing stairs
can be difficult
AGE FIVE YEARS
before adolescence
walking becomes
more difficult.
He may need a
walker or
wheelchair
adolescence
It depends on a
wheelchair. He needs
help eating because he
cannot move his arms
and legs. May need
respiratory assistance

7. YOUNG ADULTS
Become almost totally dependent on a caregiver
30 years and up
The chances of heart and breathing
problems are increased

8. It is a structural protein in muscle that is encoded by the
DMD gene and is the largest in the human genome.
It acts as a shock absorber, like a type of glue.
Binds to the muscle membrane and helps maintain
muscle cell structure
Without dystrophin, muscles cannot function properly,
suffer progressive damage, and eventually die
dystrophin gene
DYSTROPHIN
This figure schematizes the 79 exons that
make up the complete dystrophin gene

9. HOW IS THIS DISEASE INHERITED?
The change in the gene that causes
DMD occurs on the X chromosome. A
child inherits an X chromosome from
his mother and a Y chromosome from
his father. Only the X chromosome can
have the modified gene. Women
almost never get DMD, because they
have two X chromosomes. Even if a
woman has an X chromosome with the
DMD gene, her second X chromosome
will usually make enough dystrophin to
keep her muscles strong.