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Duchenne muscular dystrophy (DMD) is the most common fatal genetic disorder diagnosed in early childhood, affecting approximately 1 in every 3,500 male births (about 20,000 new cases each year). Since the Duchenne gene is found on the X-chromosome, it primarily affects boys. Children with DMD cannot produce dystrophin, a protein necessary for muscle strength and function. Duchenne results in progressive loss of strength. Therefore, the progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lung.
 
Boys with DMD begin to show signs of muscle weakness as early as age three. The course of DMD is fairly predictable. Initially, children with the disease may appear normal, but their muscle cells soon begin to deteriorate due to the faulty gene that inhibits the production of dystrophin. By school age, children with DMD may walk on their toes or the balls of their feet, with a slightly unsteady gait and can easily fall. Walking and running become increasingly difficult. The disease gradually weakens the skeletal muscles, those in the legs, trunk, and arms. By the early teens the heart and respiratory muscles also may be affected. Ultimately, the child suffers a slow deterioration of most of the muscles of the body.
 
The reality of DMD
  • Approximately one third of all DMD cases are the result of random spontaneous genetic mutation.
  • Any boy of any race or culture can get DMD.
  • By the time they are 8 to 12 years old most boys with DMD are in wheelchairs.
  • DMD is associated with respiratory failure, heart failure, and orthopedic complications.
  • DMD has a 100% fatality rate.
  • Most DMD boys die in their early twenties.
  • Although DMD is the most common fatal genetic disorder to affect children, there is no cure.
Although much is known about the cause and effects of DMD, the current treatment options are extremely limited. Doctors recommend steroids and daily stretching, but these approaches are not enough. Steroids are often associated with serious side effects and despite daily stretching many DMD boys need orthopedic braces and corrective surgery to combat debilitating muscle contractures.
 
Research is vital in order to find a cure. Breakthroughs in understanding the disease through gene therapy, immunology, stem cell technology and pharmacological therapies can lead to progressive treatments and ultimately an end to DMD.