Duchenne Muscular Dystrophy

Posted by e-Medical PPT Saturday, September 4, 2010
Duchenne muscular dystrophy is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 to 5000 newborn males
,making it the most prevalent of muscular dystrophies.The disorder is caused by a mutation in the dystrophin gene, located in humans on the X chromosome (Xp21).The dystrophin gene codes for the protein dystrophin, an important structural component within muscle tissue.
Symptoms usually appear in male children before age 5 and may be visible in early infancy.
Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first.A positive Gowers' sign reflects the more severe impairment of the lower extremities muscles.Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy of calf and deltoid muscles,low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue fibrosis.Later symptoms may include abnormal bone development that lead to skeletal deformities(Scoliosis).Cardiomyopathy(DCM) is common, but the development of congestive heart failure or arrhythmias is only occasional.The average life expectancy for patients afflicted with DMD varies from late teens to early to mid 20s.

* Creatine kinase (CPK-MM) levels in the bloodstream are extremely high.
* An electromyography (EMG) shows that weakness is caused by destruction of muscle tissue rather than by damage to nerves.
* Genetic testing can reveal genetic errors in the Xp21 gene.
* A muscle biopsy or genetic test confirms the absence of dystrophin.
There is no known cure for Duchenne muscular dystrophy, although recent stem-cell research is showing promising vectors that may replace damaged muscle tissue. Treatment is generally aimed at controlling the onset of symptoms to maximize the quality of life.
Related Posts Plugin for WordPress, Blogger...

0 Responses to Duchenne Muscular Dystrophy

Post a Comment

We are on Google+

Share This

GET UPDATES!!!

Subscribe by E-mail & receive updates your inbox!
Enter your email address:

Follow Us on Facebook

Blog Archive