Duchenne+muscular+dystrophy

Duchenne Muscular Dystrophy (DMD)
 * 1. Discovery **
 * [[image:nieves 1.jpg width="108" height="142" align="center"]]

|| * Duchenne Muscular Dystrophy (DMD) was first discovered in the 1980s by a French neurologist named Guillaume Benjamin Amand Duchenne.


 * In 1986, MDA researchers identified a particular gene on the X-chromosome that leads to DMD when there’s a mutation.


 * In 1987, the protein associated with the gene was also identified and named dystrophin. The lack of this protein in muscle cells causes them to be very fragile and prone to damage. ||
 *  2. Symptoms/Characteristics **
 * Symptoms of DMD can start as early as 3 years old and occur in 1-6 years of age.

Symptoms include:
 * Weakness of muscles of calves, hips, pelvic area, thighs, shoulders, then soon voluntary muscles like the arms and legs.
 * Enlarged calves.
 * Having a waddling walk and difficulty going up stairs or running.


 * Treatment **

The goal of treatment for DMD is to control the symptoms and related complications caused by severe progressive muscle weakness and loss in order to maximize the quality of life. There is no known cure yet for DMD, and the disease is 100% fatal.
 * Gentle exercise is encouraged for people with DMD. Laying down on bedrest can actually weaken the muscles even further, but over-exertion is also dangerous.
 * Steroids may be used to improve the strength and function of muscles, including lung functions.
 * The different steroids that are most commonly used for treating DMD are Prednisone, Deflazacort, and Oxandrolone.
 * ** Prednisone: ** A steroid that has been shown to extend the ability to walk by 2 to 5 years.
 * <span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">** Deflazacort: ** Another form of Prednisone and is used in Europe; believed to have fewer side effects.
 * <span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">** Oxandrolone: ** A medication used in research study.
 * <span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">Physical therapy may be helpful to maintain muscle strength and function.
 * <span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">Orthopedic devices such as braces and wheelchairs may improve the ability to move and be safe. || [[image:nieves 7.png width="210" height="181"]]

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 * <span style="color: #45818e; font-family: &#39;Courier New&#39;; font-size: 20pt; vertical-align: baseline;">3. Inheritance Pattern **
 * <span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">DMD is found on the X-chromosome and is recessive. It is passed on by the mother, who is referred to as a carrier.

|| <span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">DMD may be caused by a variety of environmental factors, particularly stress. Sometimes boys who carry the disease don’t live in the best conditions and are having a hard time.
 * <span style="color: #45818e; font-family: &#39;Courier New&#39;; font-size: 20pt; vertical-align: baseline;">4. Environmental Factors **

<span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">The disorder most commonly affects males of any ethnic group, but is especially common in Europe and North America. 1 in 3,500 male births result in DMD.
 * <span style="color: #45818e; font-family: &#39;Courier New&#39;; font-size: 20pt; vertical-align: baseline;">5. How common is the disorder? **


 * <span style="color: #45818e; font-family: &#39;Courier New&#39;; font-size: 20pt; vertical-align: baseline;">6. Tests in Diagnosis **
 * [[image:nieves 12.jpg width="225" height="155"]]

|| <span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">A doctor may suspect DMD in a young boy who has signs and symptoms of the disease. Looking at the family history is also important since the disease can be passed on.

<span style="background-color: #ffffff; font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">Types of tests done for diagnosis:
 * <span style="font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">Blood test which measures the levels of serum creatine phosphokinase (CK or CPK). Very high CK levels indicate muscle damage is causing the muscle weakness, rather than nerve damage.
 * <span style="font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">Molecular genetic testing to see whether there is a change or mutation in the DMD gene that can cause DMD or one of the related dystrophinopathies.
 * <span style="font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;"> Electromyography can be used to distinguish conditions that only impact the muscles(myotonic) from those that involve that brain and muscles (neurogenic). ||


 * <span style="color: #45818e; font-family: &#39;Courier New&#39;; font-size: 20pt; vertical-align: baseline;">7. Chromosomes **
 * * <span style="font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">The X-chromosome is responsible for the disorder since it carries the dystrophin gene. Boys are more susceptible to getting the disorder because they have only one X-chromosome.


 * <span style="font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">DMD is caused by a mutation in the dystrophin gene where it doesn’t actually produce enough dystrophin. The dystrophin gene can mess up and code to produce a different protein other than dystrophin. If the gene that produces dystrophin is never turned on, or a faulty dystrophin is produced, then that’s what causes DMD.

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 * <span style="font-family: &#39;Courier New&#39;; font-size: 14pt; vertical-align: baseline;">Frameshift mutation that can change the codon reading frame, which can cause the gene to code for a different protein other than dystrophin. || [[image:nieves 14.png width="264" height="202"]]

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 * <span style="color: #45818e; font-family: &#39;Courier New&#39;; font-size: 20pt; vertical-align: baseline;">Works Cited: **