UTMB
Drs. Niesel and Herzog Medical Discovery News - bridging the world of medical discovery and you...
HomeAbout UsRadio ShowsPodcastListener QuestionsRadio StationsContactsReliable LinksStudents
 

Radio Shows | Duchenne Muscular Dystrophy - DMD | mp3wmawav

One great fear for parents is having a child with a genetic disorder.

For parents of caucasion boys - one of the most common disorders is Muscular Dystrophy or MD. Today we'll talk about a new treatment that offers those families great hope.

MD is a muscle wasting disease. Of the nine forms one of the worst is Duchenne's Muscular Dystrophy or DMD. DMD is the result of genetic mutations on the X chromosome.

Unlike girls who have two X chromosomes, boys have only one and those with a defective gene don't have another X chromosome to provide correct genetic instructions.

This particular gene is responsible for encoding a muscle structural protein called dystrophin.

People with DMD either do not make enough of it or they make defective ones.

Without a functional dystrophin, muscles cells die and are eventually replaced with fat and connective tissue.

Children with DMD appear healthy when they're born until they start showing progressive muscle weakness that begins in the pelvis and legs and eventually affect all muscles.

Most kids show symptoms before age 5 and need wheelchairs by the time they're 12. As the disease progresses, the muscles they use to breathe are affected and they usually die in their early twenties.

There is now hope in a new drug for kids with a type of DMD where a truncated dystrophin is made.

The drug called PTC124 overrides the mutation so the full length dystrophin protein is produced.

Therefore this drug actually corrects the defect that ultimately kills DMD patients.

So far PTC124 appears safe.

Click here to email this page to a friend.


For more information…

PTC Therapeutics has a web page available explaining their product PTC-124. It provide text and video links to information. It summarizes the clinical trials to date using PTC-124 to treat patients with muscular dystrophy and cystic fibrosis.
For more information…

MedlinePlus brings together authoritative information from National Library of Medicine, the National Institutes of Health (NIH), and other government agencies and health-related organizations. MedlinePlus also has extensive information about drugs, an illustrated medical encyclopedia, interactive patient tutorials, and latest health news. IT has an extensive page waith information about muscular dystrophy here and cystic fibrosis here.

The prestigious journal Nature published this Editor's Summary which provide links to other publications describing this unique drug.
For more information…

A in depth series of articles that talk about the Black Death and the various theories as to its cause including mentions of anthrax and viruses.
For more information…

Brief overviews of PTC-124 and the clinical trial can also be read here and here.

 
 

home | about us | radio shows | podcast | listener questions | radio stations | contact us | links | students | disclaimer

2006-2007 Drs. David Niesel and Norbert Herzog. All Rights Reserved.
The University of Texas Medical Branch. Please review our site policies.
Send mail to J. Junemann with questions or comments about this web site.