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Muscular Dystrophy

Created by David Liernur 3-13-21


What is Muscular Dystrophy

Muscular Dystrophy is also known as MD is a group of


different diseases. Muscular Dystrophy causes gradual
muscle weakness to varying severities. It is a fairly rare
disease most often diagnosed in childhood, about 1 in 5000
people have muscular dystrophy.
Types of Muscular Dystrophy

There are 9 different types of muscular dystrophy that can


affect you at different ages in your life. All of them affect your
muscle mass and cause gradual muscle loss, depending on the
type the speed varies. Some cause different deformities.
Although they all cause similar symptoms, they are often
caused by different things and start in different areas of the
body. The 9 types are Becker, Congenital, Duchenne, Distal,
Emery-Dreifuss, Facioscapulohumeral, Limb-Girdle,
Myotonic, Oculopharyngeal.
How does Muscular Dystrophy affect
you?
As mentioned previously, all types of muscular dystrophy
cause gradual muscle weakness. But how exactly does this
affect you? It all depends primarily on what type of muscular
dystrophy you have, I will focus on the 3 most common types
of Muscular Dystrophy. Which are Duchenne muscular
dystrophy, Becker dystrophy, and myotonic dystrophy.
Duchenne muscular dystrophy

Duchenne Muscular Dystrophy is the most common of all of the


MDs. It is most often diagnosed between the ages of 3-5. It is most
often discovered when its symptoms affect the person. Symptoms
include walking on the tips or balls of your feet, falling, running
slower compared to normal, and having problems with steps. It is
also associated with learning difficulties. Children are usually in a
wheelchair by age 11. It can also cause pulmonary issues and cause
trouble breathing.
Becker dystrophy

Becker Dystrophy is also very common. Becker is a less severe


version of Duchenne. It usually doesn’t show any symptoms other
than learning to walk a little slower than most until the ages of
10-13 where you can notice pelvis weakness. A few years later this
causes walking issues. Similarly to Duchenne, people with Becker
may struggle with walking and running quickly, and going upstairs.
It can also cause heart and breathing issues though they aren’t as
severe as Duchenne due to its slower nature.
Myotonic dystrophy

Myotonic Dystrophy has two different types, one diagnosed at


birth and another diagnosed in adult life. Myotonic Dystrophy is
the most common MD diagnosed in adults. Myotonic Dystrophy
causes weakness of muscles, similar to the other dystrophies, but
only voluntary muscles such as the skeletal muscles. It can also
cause Myotonia which makes you unable to relax muscles. Type
one does affect involuntary muscles and can make it difficult to
swallow, and cause heart and breathing issues.
Causes of Muscular Dystrophy

All of the different Muscular Dystrophies are caused by different things.


I’ll go over all 9 different muscular Dystrophies and give a basic
explanation of what causes each of them. First of all, Duchenne Muscular
Dystrophy is commonly found in boys because of a gene that affects a
certain protein that is on the X Chromosome, and since girls have 2 X
Chromosomes they are able to produce the protein without fault more
often. Secondly, Congenital MD is caused by genetic defects that alter
the way that vital muscle proteins are created.
Causes of Muscular Dystrophy 2

Becker Muscular Dystrophy is caused by the same reasons as


Duchenne Muscular Dystrophy. Distal Muscular Dystrophy is
caused by mutations in various genes which can cause many
different forms of Distal Muscular Dystrophy. Emery-Dreifuss
Muscular Dystrophy is a genetic condition caused by a
combination of passed-down genes. And the other muscular
dystrophies are caused by similar issues.
Treatment Options

Here are a few of the different treatments for the different MDs, many of
the treatments apply to all of them. Your doctor will recommend the best
course of action but it’s good to be informed here are some of the
treatments. Physical therapy, combined with physical activity can be vital
for patients with Muscular dystrophy to help stave off the effects for
longer because of increasing muscle strength. Respiratory Therapy is
also important for patients with MDs because of their weakened lung
muscles and issues breathing.
Treatment Options 2

Surgery can be used to treat some of the symptoms of the different


MDs, as discussed in a presentation from last semester, MD can
cause heart issues that weaken the heart muscle, surgery may be
necessary to put a pacemaker in to help the heartbeat. MD can also
cause scoliosis as discussed in the bone maladies presentation
which may make it necessary to have corrective surgery. Another
course of treatment that has started being tested is Gene Therapy,
as discussed in (Continued in the next slide.)
Treatment Options 3

(Started in the previous slide) the causes of Muscular Dystrophy,


missing proteins, or gene mutations that may cause different kinds
of MD can be corrected by gene therapy, though this isn’t fully
researched and is still in active development. There are also many
drug therapies that can be used to help mitigate different
symptoms of MD, but unfortunately, all of the Muscular
Dystrophies can not be cured.
Conclusion:

Although the different kinds of Muscular Dystrophy are scary,


modern medicine is constantly evolving and cures for
different diseases and new treatments are constantly being
discovered. In this presentation, you will have read about
what Muscular Dystrophy is, the different types, their causes,
effects, and treatment options. And I hope you are now more
informed!
Sources:

“Muscular Dystrophy: Hope Through Research.” National Institute of Neurological Disorders and
Stroke, U.S. Department of Health and Human Services,
www.ninds.nih.gov/disorders/patient-caregiver-education/hope-through-research/muscular-dystrophy-h
ope-through-research

“Types of Muscular Dystrophy and Neuromuscular Diseases.” Johns Hopkins Medicine,


www.hopkinsmedicine.org/health/conditions-and-diseases/types-of-muscular-dystrophy-and-neuromus
cular-diseases.

“Becker Muscular Dystrophy (for Parents) - Nemours KidsHealth.” Edited by Mena T. Scavina,
KidsHealth, The Nemours Foundation, Mar. 2018, kidshealth.org/en/parents/becker-md.html.

“Duchenne Muscular Dystrophy (for Parents) - Nemours KidsHealth.” Edited by Mena T. Scavina,
KidsHealth, The Nemours Foundation, Mar. 2018, kidshealth.org/en/parents/duchenne-md.html.
Sources 2:

“Diseases - Myotonic Dystrophy DM - Top Level.” Muscular Dystrophy Association, 24 Oct.


2020, www.mda.org/disease/myotonic-dystrophy.

“Diseases - CMD - Causes / Inheritance.” Muscular Dystrophy Association, 31 Jan. 2018,


www.mda.org/disease/congenital-muscular-dystrophy/causes-inheritance#:~:text=The%20C
MDs%20are%20caused%20by,required%20to%20produce%20the%20disease.

“Articles.” Cedars,
www.cedars-sinai.org/health-library/diseases-and-conditions/d/distal-muscular-dystrophy.html.

“Emery Dreifuss Muscular Dystrophy.” NORD (National Organization for Rare Disorders), 22
June 2015, rarediseases.org/rare-diseases/emery-dreifuss-muscular-dystrophy/.

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