John D. Chovan, James R. Cacchillo
Muscular Disorders, Childhood Muscular Dystrophy
Medical Pathology | Medicine and Health Sciences | Musculoskeletal Diseases | Nursing
Young boys usually present with disordered or delayed motor development, muscle weakness, and possible speech delays in early childhood (Ruiten et al, 2014). The first symptoms almost always show up prior to the age of six years. Parents may notice their young child with DMD having a hard time standing up, walking, or climbing stairs, and many will eventually need a wheelchair to get around (Brennan, 2014). Initial blood tests obtained are remarkable for an elevated creatine kinase (CK) and then diagnosis is typically confirmed with a genetic test showing a mutation in the dystrophin gene (Ruiten et al, 2014). Eventually with progressive muscle dysfunction, cardiac complications occur. Cardiomyopathy occurs in at least 90% of patients with DMD, but shows up at varying ages (Ashwath, Jacobs, Crowe, Ashwath, Super, & Bahler, 2014) Most of these patients initially develop heart disease characterized by fibrosis in the basal inferolateral wall of the left ventricle and then the lateral free wall (Ashwath et al, 2014). Some other symptoms that occur as DMD progresses include a waddling gait, walking on toes, scoliosis, shortness of breath, fatigue, difficulty concentrating, and problems with learning and memory. Although intelligence is not affected by DMD, some children develop learning disabilities or behavioral issues (Brennan, 2014). Of note, DMD is not usually a painful disease process, although it can cause muscle cramping at times. Most of those affected maintain function of their bladder and bowel (Brennan, 2014).
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