Skip to main content
. Author manuscript; available in PMC: 2013 Feb 1.
Published in final edited form as: Phys Med Rehabil Clin N Am. 2011 Dec 13;23(1):187–xiii. doi: 10.1016/j.pmr.2011.11.010

Table 1.

Characteristics of DMD

Level of Pathology Definitions and Descriptors at Various Levels of the Disease
Genetic X-linked, hereditary or spontaneous
Cellular Absence of the protein dystrophin, mechanical weakening of the sarcolemma, inappropriate calcium influx, recurrent muscle ischemia, aberrant cell signaling, increased oxidative stress, histologic z-disk disruption, central nucleation, fiber size heterogeneity, reduced expression and mislocalization of dystrophin-associated proteins
Tissue Intramuscular accumulation of fibrous connective and fatty tissue, pseudohypertrophy
Organ systems Musculoskeletal system, nervous system, digestive system, immune system, cardiorespiratory system
Clinical Lethal, progressive, 1:3500 live male births, muscle wasting and weakness, susceptibility to fatigue, muscle pain, elevated serum creatine kinase, myoglobinuria, Gower sign, lordosis, progressive difficulty with ambulation, contractures, contraction-induced injury, secondary disuse atrophy, increased fat mass, side effects of medications, cardiorespiratory failure