Tuesday, July 20, 2010

Duchene Muscular Dystrophy- discovered in 1861

It is an inherited disorder that involves muscle weakness that continually worsens.

Symptoms-Usually appear early on in childhood.
• Progressive muscle weakness •Belly sticks out due to weak muscles
•Ability to walk worsens •Thin weak thighs
•Motor skills impaired •Starts to affect breathing and heart.
•Skeletal deformities

Life Expectancy is found to be teens to mid thirties

Diagnosis
Gene testing shows errors on Xp21

Gene Mutation
Lack of dystrophin protein
DMD is located on x-chromosome on Xp21 locus
It is an x-linked recessive gene. Boys are generally the ones affected.

Complications
•Congestive heart failure(rare)
•Deformities
•Irregular heart beat(rare)
•Mental impairment

Prevention and Treatment
•No cure
•Use steroids to treat
•Exercise helps and braces when they can’t walk as well. Physical therapy helps.

No comments:

Post a Comment