Duchenne Muscular Dystrophy

Julia McClanahan

Signs and Symptoms

Children that have Duchenne Muscular Dystrophy (DMD) are usually late walkers. Toddlers with DMD may have something called pseudohypertrophy which is when your calfs are enlarged. Preschoolers with DMD are often clumsy and have troubles with getting off of the floor, climbing stairs, and running. In the school ages, the child may walk on the balls of their feet and waddle slightly. They may also stick out their stomach and bring shoulders back to keep balance. They also have difficulty with raising their arms. Between ages 7 and 12 children transition to a wheelchair. In the teen ages using arms and legs may require assistance.
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Causes/Inheritance

Duchenne Muscular Dystrophy happens because the mutated gene fails to produce virtually any functional dystrophin. DMD is inherited in an X-linked pattern. This is because the gene that could carry a DMD-causing mutation is on the X chromosome. Every boy gets and X and a Y chromosome from their father. Each girl gets 2 X chromosomes from both of their parents. A lot of times DMD runs in the family but their is a chance of a child with no history of DMD in the family to get it. It is caused by a mutation in a gene which is called the DMD gene that can be inherited in families in an X-linked recessive fashion.

Medical Management

There is a group known as corticosteroids which has medicines called Prednisone and Deflazacort belonging to it. These medicines have been found effective in slowing the course of DMD. These medications are not usually available in the United States. Many studies have shown that these medications of DMD showed an increase in strength, timed muscle function, and pulmonary function. Their are also many other ways of medical management such as anesthesia, braces and wheelchairs, cardiac care, contractures, diets, exercise, physical and occupational therapy, and respiratory care.

Diagnosis

When in diagnosis of any form DMD a doctor will start by taking a patient and family history, and performing a physical examination. When in diagnosis tests include analyzing the DNA of an cells to see if there is a mutation in the dystrophin gene and if there is, where it is. Females with male relatives with DMD can have DNA tests done to see if they have the disease also.

Is the disorder common?

Duchenne Muscular Dystrophy is the most comman form of Muscular Dystrophy. It affects approximately 1 out of every 3,500 boys. Girls can carry DMD but its not very likely. Boys are more likely to get this disease than girls.

WOAH

I was surprised that one of the causes of DMD is that a childs calfs will swell up really big.