Duchenne muscular dystrophy

Discussion:

Duchenne muscular dystrophy (DMD) is an X-linked, progressive muscular disorder that is usually diagnosed in males around age 3-5 years.

The most common initial presentation is a male who has gradually progressive difficulty standing up from a seated position secondary to proximal thigh muscles weakness. By age 12 years, patients are usually wheelchair dependent and may have respiratory and cardiac muscle weakness. Severe respiratory compromise leads to tracheostomy dependence.

In addition to muscle tissue, bone development is negatively affected in DMD for many proposed reasons including decreased muscle tensile strength, reduced ambulation, disruption in calcium homeostasis, and frequent corticosteroid use. Scoliosis and fractures are common in this population due to profound muscular weakness.

This case was submitted with supervision and input from:

Soni C. Chawla, M.D.
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center

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