Navigation Links
Researcher Studying Disease That Cripples Newborns

Each year, the parents of an estimated one in 20,000 newborns are shocked to learn their child has type 1 congenital myotonic dystrophy (CDM1), a progressive and crippling genetic disorder. Although doctors know that babies inherit CDM1 from their mother and prenatal tests are available, many children are not diagnosed until they are born.

In these instances, mothers dont know that they have type 1 myotonic dystrophy (DM1) a common form of muscular dystrophy because they have mild symptoms or none at all, notes Mani S. Mahadevan, M.D. a pathologist at the University of Virginia Health System and winner of the 2007 Rachel Fund Award for myotonic dystrophy (DM) research.

DM1 is the nations most prevalent inherited neuromuscular disorder, afflicting men and women equally. In general, parents with DM1 pass it along to half of their children. Affected sons and daughters usually begin exhibiting symptoms in their teens or twenties. Although symptoms tend to get more severe and appear earlier in life with each successive generation, some people inherit such a mild form of the disease that it goes unnoticed.

CDM1 is by far the severest form of DM. Because they lack muscle tone, afflicted newborns are floppy like rag dolls. Typically, they suffer from poor sucking and swallowing responses, respiratory ailments and impaired motor development. Twenty-five percent of them die within a month. The outlook for those who survive is bleak they become increasingly weak and disabled and suffer from mental retardation.

Children with CDM1 face a lifetime of physical and occupational therapy and require special educational programs. Currently, there is no treatment that either slows down or cures this disorder.

Changing this prognosis is a goal of Dr. Mahadevan. Over the next two years, the Rachel Fund will be providing $239,756 (Canadian) for his research. In a groundbreaking study published last year, Dr. Mahade van and his UVa colleagues discovered how to activate and deactivate DM1 in laboratory mice. Now, their goal is to translate what they have learned to benefit humans.


'"/>




Related medicine news :

1. Researchers urge caution in using ear tube surgery
2. Researchers Scale to assess the Severity of Epilepsy in Kids
3. Researchers trick Alzheimers Enzyme
4. Researchers find new HIV hiding place
5. New Hair in 15 Days Could Now Be A Possibility Say Researchers
6. Researchers developed world’s smallest toothbrus
7. Researchers discover receptor cells that can cause epilepsy
8. 15 Anti-SARS Drugs Identified By China-Europe Team of Researchers
9. Researchers reversed the process of memory loss
10. Researchers Identify Key Gene That May Help Brain Treatment
11. Researchers Discover Protein That Causes Malaria
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/5/2016)... Ontario (PRWEB) , ... February 05, 2016 , ... After ... Scarborough General Hospital Burn Unit, plastic and cosmetic surgeon Dr. Wayne Carman transitioned to ... Scarborough Hospital. He successfully completed his first three-year term as chief and began a ...
(Date:2/5/2016)... , ... February 05, 2016 , ... The American public ... such water may be safer than regular municipal or well water. The recent experience ... host Sharon Kleyne, could go a long way toward increasing public acceptance of recycled ...
(Date:2/5/2016)... ... February 05, 2016 , ... Pivot ... 2015 Best in KLAS: Software & Services for HIT Implementation Support & Staffing ... report independently ranks vendor performance by healthcare executives, managers and clinicians representing over ...
(Date:2/5/2016)... ... February 05, 2016 , ... ... CitiDent, announces that it is now welcoming orthodontist, Dr. Amanda Cheng, to ... a complete range of oral health care, including general dentistry, cosmetic treatments, periodontics, ...
(Date:2/5/2016)... ... February 05, 2016 , ... California Mobile Kitchens ... debut of their latest mobile kitchen model, featuring customizable stainless steel interiors and ... commercial kitchens for use anywhere in the U.S. Many of their units can ...
Breaking Medicine News(10 mins):
(Date:2/4/2016)... Feb. 4, 2016 Wegener Polyangiitis - ... Markets Direct,s, ,Wegener Polyangiitis - Pipeline Review, H2 ... therapeutic pipeline. This report provides comprehensive information ... with comparative analysis at various stages, therapeutics assessment ... of administration (RoA) and molecule type, along with ...
(Date:2/4/2016)... LONDON , Feb. 4, 2016 ... Identifying and Commercializing First-in-Class Innovation ... disorder associated with chronic inflammation of the airways ... of COPD symptoms make the disease one of ... cause of death in the world. COPD is ...
(Date:2/4/2016)... 4, 2016 In response to the opioid abuse ... Commissioner for Medical Products and Tobacco, along with other FDA ... agency,s approach to opioid medications. The plan will focus on ... in pain access to effective relief. ... , Re-examine the risk-benefit paradigm for opioids and ensure that ...
Breaking Medicine Technology: