Duchenne muscular dystrophy is the dmd disease full form. Duchenne muscular dystrophy is a genetic condition that causes muscle degeneration and weakness.
Duchenne muscular dystrophy (DMD) is an inherited form of muscular dystrophy which primarily affects males and usually appears in early childhood. Its name is taken from the French physician, Guillaume Duchenne, who first described it in 1835. It is caused by a mutation of the gene that codes for dystrophin—a protein that stabilizes muscle structure and facilitates movement between muscles with subsequent weakening or loss of function. Most often DMD strikes boys at about three years old when they begin to walk with support such as crutches or with orthopedic braces such as AFOs. It is X-linked recessive, meaning that DMD is passed from mother to son. If the condition was not inherited or if it was due to a spontaneous mutation at conception, dystrophin would exist in every cell of the body.
Dystrophin is an essential component in muscle fiber function and when absent there is a significant reduction in muscle strength and speed of contraction. Without dystrophin, muscle cells are easily damaged, but their sodium pumps can compensate somewhat by maintaining high concentrations of calcium. This increases the risk for cardiac arrhythmias and high blood pressure that can be fatal in adults even if no sign or symptom was ever noticed before.