DMD , second post.
Duchenne Muscular Dystrophy is a genetic disorder characterized
by progressive muscle degeneration and weakness. It is an X-linked recessive
mutation that causes an absence of dystrophin. Dystrophin is responsible for
skeletal and cardiac muscle function, connects muscular skeleton to extracellular
matrix. DMD is primarily found in boys age 3-5. It is usually inherited but has
been also shown in families that do not have a known family member with the
disease. DMD causes loss of muscle
function and weakness in the muscles, it is found in about 1 in 3500 male
births worldwide
DMD is Inherited by X-linked recessive pattern. Since males
only have one copy of the X chromosome (XY) and females have 2 copies of the X
chromosome (XX), the disease is primarily seen in males. The mutation is often
passed down from a mother who has the mutation. It is estimated that 50% of
boys will be affected by a mother who carries a copy of the mutated gene on her
X chromosome. There is about a two-thirds chance of a women having unaffected
son with no family history plus of being a carrier of a changed gene. So if you’re wondering if females can get DMD,
they can. Females can be carriers for the disease but they do not exhibit symptoms
because if one of a female’s X chromosomes has the gene, the other X chromosome
may produce the needed dystrophin protein. Females have a 50% chance of passing
on the gene with each pregnancy, leading to a 25% chance of having a child with
Duchenne. 50% of the girls will be carriers.
Symptoms of DMD usually appear during ages 1-6 in
males. Early signs of DMD include slower
muscle movement in sitting and standing independently. The progressive
development of the disease causes a waddling gait (walk), weakness of legs and
pelvic muscles, and loss of muscle mass in the arms, legs, neck, and other
areas. Symptoms are also noticed in respiration and cardiac complications.
Breathing is often affected due to Cardiomyopathy. Many individuals do not live
past their 30’s due to their symptoms. Most common cause of death is
respiratory failure due to cardiomyopathy.
Treatments for DMD depends on the symptoms. There are
a few options available depending on the apparent symptoms. Some of the
symptoms include, aggressive management via anti-congestive medicine, physical
therapy used for patients with loss of muscle mass, respiratory devices used to
help assist in breathing, and the administration of Prednisone (steroid).
It's crazy how a simple mutation can alter someone's life so drastically. Great job on this post. I like how every week you have a new disorder or disease to talk about. DMD is a very serious disorder and hopefully more treatments can come about to make lives easier so those diagnosed.
ReplyDeleteDMD is an extremely serious and debilitating disease. It shows you how fragile DNA is and how impactful it is the human physiology. Hopefully, with research. there will be more treatments that will be developed to help those that are stricken with this disease.
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