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
supports muscle fibres protecting them from injury as the muscles contract and relax (U.S. Department of Health and Human Services, 2017, para. 2). DMD causes the skeletal and heart muscles to breakdown leading to difficulties in walking, mobility, swallowing and breathing, thus increasing the chances of fatality (MDA, 2015, para. 1). The image shown below depicts the structure of a normal bicep on the left compared with that of a bicep with DMD shown on the right (See Figure 1). Figure 1: The structure of a normal bicep compared with that of a bicep with DMD (Joint Essential, 2013).
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,
2017)

These physical impairments are the basis of gross motor skill difficulties, including coordination of the arm and legs which cause DMD suffers to become easily fatigued. Darras, Jones, Ryan, and De Vivo (2014, p. 75) advise the physical impairments associated with DMD can exacerbate deterioration of the muscles that support heart and lung function. As a result, disturbed sleep patterns can trigger fatigue, reduced concentration and memory, and negative behaviour that can impede learning and social skills (Darras et al., 2014, p. 565).

Despite there being no cure for this type of muscular dystrophy, Uzark et al. (2012) explain there are medications and therapies that can help manage the symptoms. Medications that health professional may prescribe are corticosteroids such as prednisone and deflazacort. These are used to improve muscle strength and potentially delay the progression of muscle deterioration (Matthews, Brassington, Kuntzer, Jichi, & Manzur, 2016, p. 3). However, the Mayo Clinic (2017) warn that long-term use of corticosteroids may cause weight gain and deterioration of bones, thus increasing this risk of fractures. Angiotensin-converting enzyme inhibitors or beta blockers may also be prescribed if DMD has caused damage to the heart resulting in cardiomyopathy (Viollet, Thrush, Flanigan, Mendell, & Allen, 2012. p. 98).

Alternative therapies, such as assistive devices can improve one’s quality of life and may even extend the life expectancy of people living with DMD. Examples include walkers, canes, posture support cushions and wheelchairs. Marino, Marino, and Shaw (2006, p. 20) advise that pencil grips and slant boards assist individuals who have difficulty with handwriting due to DMD. Furthermore, as DMD restricts joint flexibility and mobility, stretching exercises can be implemented to counteract this limitation. Walking and swimming are two other low impact exercises that can be introduced to help maintain strength, mobility and general health.

Due to the progressive and incurable nature of this disability, individual’s strengths, capabilities, and needs will change over time.
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
life.