Monday, May 4, 2009

Genetic Disorders: Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is a muscular dystrophy which primarily affects voluntary muscles. This genetic disorder is caused by an absence of dystrophin, a protein that helps muscle cells intact. Being a patient, the symptoms and possible complications are-
  • awkward walking, stepping, running, etc.
  • frequent falls
  • fatigue
  • difficulty in motor skills
  • effects in posture
  • muscle contractures
  • difficulty walking
  • muscle fiber deformities
  • risk of learning disabilities
  • loss of ability to walk (by age 12)
  • scoliosis
There is no treatment or cure for this disorder, but patients do go for physical therapy. The life span typically ranges from the late teens to mid 30's. Some patients live through their 40's. This disease occurs 1 in 3,500 males. Only males get this disorder, though females can be carriers. Duchenne Muscular Dystrophy can also be caused by a mutation in a gene called DMD, which is located on the X chromosome.

I think parents should check and know if in the family history whether or not anyone has ever gotten that disorder. This will help treatment and or prevention. In addition, scientists and doctors should study what is the cause of short life span and should come up with some type of antidote which can prevent short mortality. Where there's a will, there's a way!