Duchenne Muscular Dystrophy By: Gabrielle Parker

This image explains how a person can obtain Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy is a genetic disorder in which the patient progressivly loses function of the muscles in their body. It is an inherited disorder which means it has been passed down from a different family member. Duchenne Muscular Dystrophy is most commonly found in males.

The gene that causes Duchenne Muscular Dystrophy is called the DMD gene. The DMD gene is to known as the second largest gene. The protein produced by the DMD gene is called Dystrophin. Boys infected with Duchenne Muscular Dystrophy cannot produce Dystrophin.

The disease was first documented in the 1860's. The disease was discovered by a French neurologist named Guillaume Benjamin Amand Duchenne. Little information was know about the disease until the 1980's. In 1986 researchers discovered the DMD gene that was causing the mutation on the X chromosome.

1 out of 7,250 males is infected with DMD in the United States. In the United states, Hispanic and Caucasian people are more prone to getting the disease than African Americans. In 2007, about 8 in 10 males between the ages of 15 and 19 were still living with Duchenne Muscular Dystrophy. Worldwide, about 1 in 3,500 boys have DMD.

Symptoms for this disease usually occur before the age of 6. The first noticable sympotom is the delay of motor skills. This means that the patient may not be able to stand or sit by themselves. They are incapable of doing this because their pelvic and leg muscles are very weak. Since their muscles are weak, people with DMD usually begin to walk at the age of 18 months. There is a steady decline of muscle weakness between the ages of 6-11. People infected with DMD commonly pass away from breathing problems or cardiomyopathy around the age of 30.

Duchenne Muscular Dystrophy can be diagnosed in multiple ways. First, a muscle biopsy can take place. During the biopsy a sample of muscle is taken to test the Dystrophin levels. The muscle is then stained to see the Dystrophin. Second, genetic testing can be completed. The doctor takes a blood sample to see their genetic instruction. Third, The creatine kinase can be tested. Creatine kinase is an enzyme that shows up in highly concentrated muscles in the body.

In most cases, Duchenne Muscular Dystrophy can be treated, but not cured, with steriods. To help calm the cardiomyopathy, an anti congestant medication may be perscribed. Also, devices may be used at night to help keep breathing problems under control.

Males have one copy of the X chromosome, unlike females which have 2, from their mother and one Y chromosome from their father. If they have the genetic mutation of the DMD gene, they will develop Duchenne Muscular Dystrophy. The genetic pattern of inheritance is recessive.

Research on Duchenne Muscular Dystrophy is currently being conducted all over the world. Many different associations put loads of money towards the research of the disease. Some current research being completed is the usfulness of gene therapy and transfer. Doctors believe they can transfer the protein Dystrophin (which the patient lacks) into them to make the disease more managable.

Citations

"Duchenne-muscular-dystrophy." www.genetics4medics.com.

"Duchenne Muscular Dystrophy (DMD)." MDA, www.mda.org. Accessed 5 Feb. 2017.

"Editedpcrdystrophingene." image.slidesharecdm.com.

"Learning about Duchenne Muscular Dystrophy." National Human Genome Research Institute, 18 Apr. 2013, www.genome.gov. Accessed 30 Jan. 2017.

"Muscular Dystrophy." Centers for Disease Control and Prevention, 19 July 2016, http//www.cdc.org. Accessed 5 Feb. 2017.

"Recessive_carrier_mother." www.caring4connor.com

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