What causes duchenne muscular dystrophy?

Duchenne muscular dystrophy was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, but until the 1980s, little was known about the cause of any kind of muscular dystrophy. In 1986, MDA-supported researchers identified a particular gene on the X chromosome that, when flawed (mutated), leads to DMD. In 1987, the protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.
 
DMD is caused by genetic changes in the DMD gene that stop any functional dystrophin from being made. When dystrophin is missing, the muscle cells become damaged more easily. In response to the damage, inflammation occurs, which only worsens the process. Over time, the muscle cells without dystrophin weaken and die, leading to the muscle weakness and heart problems seen in DMD. The non-progressive memory and learning problems, as well as social behavioral problems, in some boys with DMD are most likely linked to loss of dystrophin in the neurons of the hippocampus and other parts of the brain where dystrophin is normally produced in small amounts, but at this point it is not known why this occurs and why only some people with DMD have these problems.

 

 

 


Sources:

  • “Duchenne Muscular Dystrophy.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services.
  • “Duchenne Muscular Dystrophy (DMD).” Muscular Dystrophy Association, 22 June 2018, 

 

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