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...
References: 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 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950302
MDA. (2013, April). Research. Retrieved from http://mda.org/disease/duchenne-muscular-dystrophy/research
MDA. (2013, April). Medical management. Retrieved from http://mda.org/disease/duchenne-muscular-dystrophy/medical-management
Poysky, PhD, J. (n.d.). Learning and behavior in duchenne muscular dystrophy for parents and educators. (2011). Parent Project Muscular Dystrophy, 1, Retrieved from http://www.columbia.edu/cu/md/Learning_and_Behavior_Guide.pdf
Sussman, MD, M. (n.d.). Duchenne muscular dystrophy. (2003). American Academy of Orthopaedic Surgeons, 10(2), 138-151. Retrieved from http://www.jaaos.org/content/10/2/138
18). Learning about duchenne muscular dystrophy. Retrieved from http://www.genome.gov/19518854
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