lunes, 27 de febrero de 2012

A Solution for Duchenne Muscular Dystrophy? | Medical News and Health Information


first step:
A Solution for Duchenne Muscular Dystrophy? | Medical News and Health Information



A Solution for Duchenne Muscular Dystrophy? -- Research Summary

 

BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited disorder that involves rapidly worsening muscle weakness. This severe, debilitating and ultimately fatal disease is one of the most frequent genetic conditions affecting approximately 1 in 3500 male births worldwide. Affected boys are usually wheelchair-bound by their teenage years. By their late teens or twenties, the boys usually experience respiratory failure or cardiomyopathy often times resulting in death.
SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth); (www.webmd.com); (www.plosone.org/)  


CAUSES: DMD is genetic, but people without a known family history of the disease can get it as well. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Dystophin is a protein that helps keep muscle cells intact. It is also an integral structural component of skeletal and cardiac muscles and connects the contractile apparatus to the sarcolemma.
SOURCE:  (www.plosone.org/)


THINGS YOU DIDN’T KNOW: Males are more likely to inherit the disease than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers.
SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth)


DETECTIONS: With DMD, boys begin showing signs of muscle weakness as early as three. The disease gradually begins to weaken skeletal, or voluntary, muscles found in the arms, legs, and trunk. Respiratory muscles may also be affected by the boys early teens, and in some cases even earlier.
SOURCE: (Duchenne & Becker Muscular Dystrophies, 2009) 


LATEST BREAKTHROUGHS: Exon skipping is a new procedure used to treat DMD. Removing a specific exon from a defective DMD gene transcript has the potential to allow synthesis of a semi-functional dystrophin, thereby reducing the severity and presumably progression of muscle wasting. The efficacy of this treatment will vary greatly between the different mutations that preclude the synthesis of a functional dystrophin.
SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth)


PREVENTION: Since DMD is genetic there is no way to prevent the disease, however, doctors do recommend people with a family history of disease undergo genetic counseling. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy. MORE
 A Solution for Duchenne Muscular Dystrophy? -- Research Summary | Medical News and Health Information


FOR MORE INFORMATION, PLEASE CONTACT:
Marie Pichaske
Children’s National Medical Center
(202) 476-6029 

third step:
A Solution for Duchenne Muscular Dystrophy? -- In Depth Doctor's Interview | Medical News and Health Information

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