While the present article is not meant to provide a comprehensive review of symptomatology, knowledge of the pertinent symptoms that may occur and persist along the clinical course is important. Dysfunctions are common in the neuromuscular, pulmonary, cardiac, and cognitive systems. Skeletal muscle degeneration with disabling progressive muscle wasting and rapid loss of mobility begins relatively early in the clinical course. Respiratory muscle function declines rapidly in the latter stages of the clinical course, resulting in respiratory failure and frequent respiratory tract infections, which contribute to early death.
5,25 All muscle types are affected, while smooth muscle and cardiac muscle tend to be affected later in the disease course.
26 Additionally, as a result of muscle dysfunction and deformities, pain is common in patients with DMD. The pain can be mild to moderate in intensity; occurs in the lower back, spine, and legs; and is typically underestimated by the physician.
27 As one of the most important quality of life measures, pain must be addressed in the treatment plan. Cardiac abnormalities include conduction abnormalities and left ventricular fibrosis leading to dilated cardiomyopathy. Cardiomyopathy begins to affect these patients in a rapidly accelerating manner, with one-third of patients having symptoms at age 14 years and all patients having symptoms by age 18 years.
28 Cognitive function in patients with DMD can be extremely varied, but mild cognitive impairment and global developmental delay are common manifestations of the disease.
29-30 Considering the wide array of symptoms that affect the patient's life and the lives of those around the patient, coordination of care and treatment approach should attempt to address the full spectrum of the disease.