The Natural Course of Duchenne Muscular Dystrophy

Principal Investigator: Nancy Kuntz, M.D.
Project Coordinator: Krista Coleman Wood, Ph.D., PT — colemanwood.krista@mayo.edu

Duchenne Muscular Dystrophy is one of nine types of muscular dystrophy in which there is absence of dystrophin, a protein that helps keep muscle cells intact. DMD mostly affects boys who inherit the disease from an X-linked recessive gene from their mothers. This disorder is marked by worsening loss of muscle function, which begins in the lower limbs. Symptoms usually appear before age 6 and may appear as early as infancy. There is progressive muscle weakness of the legs and pelvis, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body.

The Motion Analysis Laboratory is a study site in a multi-center effort coordinated by the Cooperative International Neuromuscular Research Group (CINRG) to study children with Duchenne Muscular Dystrophy (DMD). The Motion Analysis Laboratory has participated in several studies directed by CINRG. The most recently completed study looked at the effect of a medication, pentoxifylline, on DMD using measurements from the Motion Analysis Laboratory. One current study is looking at the natural history of DMD following children over a 5 year period. Each child is seen for quantitative strength testing, manual muscle testing, joint range of motion, breathing function, and evaluation of functional tasks such as going up steps and getting up off of the floor.