Duchenne Muscular Dystrophy: A Case Study

Duchenne muscular dystrophy (DMD) is one the most common forms of muscular dystrophy and is also the most severe form of muscular dystrophy (“Diagnostic Tools,” 2015) with an approximate incidence of 1 in 3,500-3,600 newborn males, depending on the source (Bushby et al., 2009a; Habermann & Ghosh, 2007; “Duchenne,” 2014) and accounts for roughly half of all people with muscular dystrophy (Mayo Clinic Staff, 2014). Muscular dystrophies are largely characterized by a progressive muscle weakness related to a protein defect. (Mayo Clinic Staff, 2014; “Duchenne,” 2014) In DMD, muscle weakness progresses relatively rapidly, e.g., compared to Becker’s muscular dystrophy, and is caused by an absence of dystrophin (<75), intellectual disability that

The patient and family should also be included and actively engaged with specialists and a medical professional, e.g., a nurse or physician, who coordinates their efforts for individualized care. (“The Diagnosis,” n.d.) In part, this is due to varying times that people may start different aspects of treatment but also due to the progressive nature of DMD. The treatment and management plan discussed here in large part follows the recommendations of a CDC promoted resource titled “The Diagnosis and Management of Duchenne Muscular Dystrophy” (n.d.) which is based on two publications by Bushby et al. (2009a; 2009b) with additional information from other sources provided with

(Chamberlain, 2002; Nowak, 2004) Nowak and Davies (2004) identified a number of promising treatment approaches which include “gene therapy […] using plasmids or viruses, [so that] mutations can be corrected using chimaeraplasts and short DNA fragments, [and] exon skipping of mutations can be induced using oligonucleotides and readthrough of nonsense mutations […] using aminoglycoside antibiotics. [Furthermore,] blocking the proteasome degradation pathway [as a way to] stabilize any truncated dystrophin protein, and upregulation of other proteins [to] prevent the dystrophic process. Muscle [could also] be repopulated with myoblasts or stem