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Duchenne Muscular Dystrophy

By jessbentley Aug 21, 2013 1448 Words
What is Duchenne Muscular Dystrophy?
Many diseases and disorders that affect the population have an early onset that begins when generations are young. Duchenne Muscular Dystrophy, DMD, is no different with a typical onset of symptoms between the ages three and five. DMD is characterized by muscle weakness that worsens rapidly. When a child, who has been diagnosed with DMD the condition can spread to the cardiovascular and respiratory muscles by the time they mature into teenagers. The beginning of the condition affects the shoulders, upper arm, hip and leg muscles. Duchenne Muscular Dystrophy is “an X-linked disease of muscle caused by an absence of the protein dystrophin” (Dr. Sussman). The disease affects young boys. If a boy is born to a mother who has a dystrophin mutation, there is a fifty percent chance that they will receive the mutated gene and develop DMD. These boys usually stop walking by the time they are teenagers, and potentially die by their early twenties. Girls, have a fifty percent chance of inheirting the gene from their mother and becoming a carrier, who may not have the disease or symptoms themselves, but could potentially have a child with DMD. A man with DMD cannot pass the gene onto his son because it is X-linked, but he can pass the gene to his daughters. Symptoms

Symptoms of Duchenne Muscular Dystrophy will typically appear before the boy is six years old but can be noticeable as early as infancy. Infants who show signs of DMD generally have “delayed motor milestones.” Motor milestones would include a child rolling over to their stomach, sitting on their own, and standing on their own. Walking becomes an issue for boys with DMD. The leg and hip muscles are weak, “which is associated with a loss of muscle mass (wasting). This muscle weakness causes a waddling gait and difficulty climbing stairs. Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body” (National Human Genome Research Institute).

Children with DMD often suffer from pseudohypertrophy, which is an enlargement of the calf muscles, because the tissue of the muscle may contain scar tissue, causing abnormalities. Toddlers will appear to be clumsy, fall often, have difficulty on the stairs, running, or getting into a standing position from the floor. As the children grow, they may walk as if they are waddling and put the weight of their bodies on either the balls of their feet or their toes. The balance of a boy with DMD is poor because of the weakness of their muscles, to compensate; they may walk with their shoulders pulled back and their stomachs out in front of them.

By the time the children are ten years old, they may need braces on their legs for walking. At twelve years old, many boys transition to wheelchair use, sometimes, only to conserve energy while traveling far distances. The bones of those with DMD have bone development problems; usually have skeletal deformities in their spines or hips. As those affected continue to grow, more problems develop including breathing disorders and cardiomyopathy, an enlarged heart. Learning and Behavioral Disabilities Associated with DMD

On top of physical deformities, some may have intellectual development problems. Almost a third of the boys with DMD, have learning disabilities. According to the MDA few suffer from “mental retardation. Doctors believe that dystrophin abnormalities in the brain may have subtle effects on cognition and behavior. Learning problems in DMD occur in three general areas: attention focusing, verbal learning and memory, and emotional interaction.” The school districts, will evaluate students if and when they believe there is a learning disability present. Specialists will make a plan for the student’s educational plan and the students will still get every opportunity to be a normal student. Students will be taught techniques and interventions will be provided to help the children live normal lives. Scientists believe that dystrophin is also found in the brain, causing learning and mental disabilities. Not all those who are diagnosed with DMD will have learning and cognitive disabilities. Boys with DMD have apparent gross motor disabilities but some may have a risk with delays in motor planning, speech development, and language development. Boys struggle with phonological processing. This can lead to the child have Dyslexia. Many specialists will recommend that the children go to speech and language therapy. Teachers and parents are encouraged to simplify directions and interactions with those who struggle with speech and language development. After directions are given, many professionals will have the students repeat the information back in their own words, proving that they understood the concrete and simplifies language of the orders for a task. Working memory can also be a weakness for some sufferers of DMD. They can take in information just like a student without the disability, but the amount of information they can work with can be considerably less, “boys who have problems in this area may appear forgetful, have difficulty following directions, or seem not to listen. These memory weaknesses are particularly related to verbal information, but some boys also have difficulty with visual information. Even boys with DMD who have a high IQ and strong verbal can have this pattern of memory weaknesses” (Dr. James T. Poysky). Some boys also have a chance to have trouble with attention and concentration. Some interventions that professionals can offer for those who are having trouble are: having the students sit closer to the instructional area, get rid of time constraints on tests and activities, have reward systems set for positive behavior, and breaking down tasks to smaller and manageable tasks. Common learning disabilities that boys with DMD have include Dyslexia, ADHD, Dyscalculia, and Dysgraphia. Dyslexia is caused by a shortfall in fundamental skills such as phonological processing and working memory. Children who have Dyscalculia “may have difficulty estimating amounts, understanding relative value, or understanding abstract or symbolic concepts in math” (Dr. James Poysky). Dysgraphia is stems from the muscle weakness. Those with language difficulties will also have trouble with spelling and reading. These disabilities make education more daunting for the students. Professionals and parents work together to make a 504 for the students, making accommodations so that the student may be more successful in the classroom and struggle far less. Treatments for DMD

Some physical aids are made available to boys with Duchenne Muscular Dystrophy. Braces, which are also known as orthoses, support from the ankle to the knee of said person. Some braces are prescribed to be worn only at night to keep the foot from pointing down and providing a stretch to the Achilles tendon. To provide those diagnosed with DMD some time standing, they often use a standing frame or standing walker, which promote healthier bones and better circulation of the blood. Wheelchairs are also used, providing boys with more mobility and independence.

Some boys are prescribe medication to make the heart work less. One worry is that cardiac muscle deterioration will present itself within individuals. At the onset of the symptoms, individuals receive full cardiac evaluations. Medications belonging to a group known as corticosteroids have been found effective in slowing the course of DMD. The corticosteroids prednisone (available in the United States) and deflazacort (not usually available in the United States) are beneficial in the treatment of DMD. Several high-quality studies of these medications in DMD showed a significant increase in strength, timed muscle function (such as the time it took to climb stairs) and pulmonary function. MDA. Boys will also receive physical therapy; this will give individuals a greater range of motions and strengthen their muscles. Occupational therapy provides assistance for individuals to learn how to leave typical daily lives despite Duchenne Muscular Dystrophy.

Hinton, V. J., De Vivo, D. C., Fee, R., Goldstein, E., & Stern, Y. (n.d.). Investigation of poor academic achievement in children with duchenne muscular dystrophy. (2004). Learning Disabilities Research & Practice, 19(3), 146-154. Retrieved from MDA. (2013, April). Research. Retrieved from MDA. (2013, April). Medical management. Retrieved from Poysky, PhD, J. (n.d.). Learning and behavior in duchenne muscular dystrophy for parents and educators. (2011). Parent Project Muscular Dystrophy, 1, Retrieved from Sussman, MD, M. (n.d.). Duchenne muscular dystrophy. (2003). American Academy of Orthopaedic Surgeons, 10(2), 138-151. Retrieved from 18). Learning about duchenne muscular dystrophy. Retrieved from

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