Duchenne Muscular Syndrome Analysis

Duchenne muscular dystrophy (DMD) is one disease of the muscles that predominantly affects males and is generally diagnosed between the ages of two and five years (Duchenne Foundation Australia, 2015). According to Muscular Dystrophy Australia (2015), there are approximately “…one in 3500 live male births throughout the world” (para. 1). DMD may be inherited by individuals with the defective gene, however, one-third of DMD cases occur as a spontaneous mutation arising in the affected individual (MDA, 2015, para. 12).

DMD is a degenerative neuromuscular disease caused by a defective gene related to the protein dystrophin (MDA, 2015, para. 1). Dystrophin is essential for maintaining the normal function of skeletal and cardiac muscles as it
Emery, Muntoni, and Quinlivan (2015, p. 31) explain that children with DMD commonly experience decreased balance, resulting in falls, and toe walking as their first signs of DMD. Approximately 90 percent of children with DMD experience physical impairments such as calf hypertrophy, joint contractions, and lordosis (curvature) of the spine with many suffering significant muscle deterioration requiring wheelchair assistance by the age of twelve (Yiu & Komberg, 2015, p. 759). An example of these physical impairments can be seen in figure 2. Figure 2: Physical impairments of DMD (Medcrome,
Children who are diagnosed with DMD will progressively lose the ability to sit upright, walk, move their hands and arms, and breathe without difficulty. The physical limitations of DMD will eventually lead to other health problems associated with lung and heart function such as cardiomyopathy. Therefore, medications and therapies to manage the physical limitations of the disability must be introduced in order to decrease the progression of muscle deterioration and improve one’s quality of