Emma Anglin

Biology 1010

April 20, 2017

Muscular Dystrophy Disease

Muscular dystrophy is a genetic disease that interferes with the muscle

proteins that are necessary to create and have healthy muscles. It is also

known as a muscle-wasting disease and is most common in males, although

it does occur in females. Muscular dystrophy is caused by mutations on the X

chromosome. Each type of this disease is due to different mutations that all

prevent the body from producing something called dystrophin. Dystrophin is

an essential protein required to build and repair muscles; so without it, a

persons muscles are weak and will not work properly, if at all.

There is not just one type of muscular dystrophy; in fact there are

about seven different types. The most common form of this illness is

Duchenne muscular dystrophy. This type usually starts before the child is the

age of three and puts them in a wheelchair before they become 12 years old.

In most cases, with this type, the person usually dies sometime in their

twenties due to respiratory failure. The early symptoms and things you will

notice sooner rather than later include; pain and stiffness in the muscles,

walking on toes, falling frequently, and difficulty running, jumping, standing,

and sitting. Symptoms can become as serious as not being able to walk and
move certain muscles. Becker muscular dystrophy is another type very

similar to Duchenne muscular dystrophy with the only difference being that it

progresses slower and starts later in a persons life. One other form of this

illness is Oculopharyngeal muscular dystrophy which occurs late in a

persons life. This type can start anywhere from age 40 to 70 years old. It

mainly affects small things like the face muscles first, and then progresses to

the shoulder and pelvis bones.

As mentioned before, muscular dystrophy is inherited in an X-linked

recessive pattern, caused by genetic mutations. So whats the biology

behind the disease? There are different types of muscular dystrophy and

each type is due to a different set of mutations. A gene mutation is when the

DNA sequence that makes up a gene is altered. The mutations can vary in

many different ways that can affect things in your body.

Why are males more affected by this disease than females? One

altered copy of the gene in a male is enough to cause the disease. On the flip

side, for the disease to occur in a female, mutations would have to occur in

both gene copies. However, females are able to pass on the gene to their

children without having to experience symptoms herself. This happened

when a female has one mutated copy of the gene.

For this disease to be diagnosed, it takes a physical exam, a look

through family medical history, or genetic tests. Unfortunately, because this

disease is genetic, it is unpreventable and sadly cannot be cured. While there

is no cure for muscular dystrophy, there are some medications and things

you can do to slow the progression and severity of this disease. Some things

include, exercise, using a cane or power wheelchair, or in some cases even

surgery. Surgery of course will not cure the disease but it can help relieve

some of the pain or hurt on the muscles. Medications can also be prescribed

for those with muscular dystrophy, but only for those also with heart related

problems.

I have never met somebody with muscular dystrophy. The only

experience I have with it is from watching someone on TV who has to deal

with it in their own life. In this case, the child with muscular dystrophy was

diagnosed around age two and is now seven. It is very apparent that her leg

muscles dont work properly and it is very hard for her to walk. She does use

a power wheelchair to get around. Her eye muscles are also affected by this

disease as she has to wear special glasses to be able to see. The impression I

get just from watching her is that she just wants to be normal and she isnt

going to let anything get in the way of that. She is pretty young but she is

always positive when it comes to achieving hard things due to her disease.
Sources Cited

http://www.medicalnewstoday.com/articles/187618.php

https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-
dystrophy#inheritance

http://www.webmd.com/children/understanding-muscular-dystrophy-
treatment#1