Duchenne muscular dystrophy

Duchenne muscular dystrophy

Duchenne
Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is 1 in 3,000. Females and males are affected, though females are rarely affected and are more often carriers. The disorder is caused by a mutation in the dystrophin gene, located in humans on the X chromosome (Xp21). The dystrophin gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane...

Duchenne muscular dystrophy - List of case studies

Psychomotor retardation due to spinal amyotrophy

Consensus Statement for Standard of Care in Spinal Muscular Atrophy Ching H. Wang, Richard S. Finkel, Enrico S. Bertini, Mary ... outcome measures for spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). UCSC has coordinated a multicentric study ...

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