What is duchenne muscular dsytrophy?

Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable by 3 or 4 years of age and begins in the hips, pelvic area, upper legs, and shoulders. The calves may be enlarged. Children with DMD may have an unusual walk and difficulty running, climbing stairs, and getting up from the floor. DMD may also affect learning and memory, as well as communication and certain social emotional skills. Muscle weakness worsens with age and progresses to the arms, legs and trunk. Most children with DMD use a wheelchair full time by age 13. Heart and respiratory muscle problems begin in the teen years and lead to serious, life threatening complications.
Risk factors
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.
A child's doctor may suspect Duchenne muscular dystrophy (DMD) in young boys who have the signs and symptoms of DMD, including progressive muscle weakness. Family history is also important. Blood tests can be used to check for  increased levels of certain special proteins called muscle enzymes in the blood which can leak from damaged muscles.
There is no known cure for Duchenne muscular dystrophy (DMD) but research is ongoing. The goal of treatment is to control the symptoms of DMD and related complications caused by severe progressive muscle weakness and loss in order to maximize the quality of life.
  • The estimated prevalence of Duchenne and Becker muscular dystrophy (DBMD) was 1 in every 7,250 males aged 5 – 24 years.
  • The prevalence of DBMD among Non-Hispanic blacks was lower than the prevalence among Hispanics and Non-Hispanic whites.
  • The prevalence of Duchenne muscular dystrophy (DMD) was 3x higher than the prevalence of Becker muscular dystrophy (BMD).




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  • Darras BT, Miller DT, Urion DK. Dystrophinopathies. GeneReviews. November 26, 2014
  • Rae MG, O'Malley D. Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules. J Neurophysiol. September 1 2016; 116(3):1304-15. 
  • Duchenne muscular dystrophy. MedlinePlus. 2017
  • Aartsma-Rus A, Ginjaar IR & Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. BMJ.
  • Duchenne muscular dystrophy medical managment. Muscular Dystrophy Association (MDA). 2017
  • FDA grants accelerated approval to first drug for Duchenne muscular dystrophy. US Food and Drug Administration (FDA). September 19, 2016


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