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Carrier Testing Now Available for Leading Genetic Childhood Killer, According to Families of Spinal Muscular Atrophy |
SourceFamilies of Spinal Muscular Atrophy
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COLUMBUS, Ohio, May 30, 1997 -- A recent medical breakthrough will enable medical professionals to determine for the first time whether a person is a carrier of the often-fatal genetic disorder, Spinal Muscular Atrophy, or SMA. SMA is the LEADING GENETIC KILLER of children under the age of two years and results in the gradual demise of muscle mass due to the loss of motor neurons in the spinal cord. One in 40 individuals are carriers of the disease. Since the disease is recessive, most people are not aware they are carriers until they produce a child with the disease. The research and development for the carrier testing was done at The Ohio State University by Thomas Prior, Ph.D., and Arthur Burghes, Ph.D., along with post-doctoral fellow, Patricia McAndrew, and Dr. Jerry Mendell. Their findings are discussed in the June issue of The American Journal of Human Genetics. The project was funded by the non-profit organization Families of SMA and the Muscular Dystrophy Association. Testing to determine the possibility of an individual having an affected child will be made by DNA analysis through blood samples. "This test will help to identify the carriers of the disease," said Prior. "Carriers, who have one copy of the SMA gene, are asymptomatic. This test now allows the accurate determination of the carrier status." SMA occurs in approximately 1/10,000 births. There are three types of childhood SMA: Type I (severe) -- infants never achieving "milestones" such as rolling over, sitting and crawling, and death occurring before age two; Type II -- children never walk unassisted; and the mildest form, Type III -- children typically walk unassisted for a period of time before needing a wheelchair for mobility. According to Audrey N. Lewis, executive director of Chicago-based Families of SMA, "This new development will benefit individuals who seek genetic testing for the devastating SMA diseases. We are very encouraged by the progress The Ohio State research team has made." The Families of SMA organization assists those affected by the disease and has more than 2,500 members nationwide. In addition to funding critical research, the organization also provides educational and emotional support to families, loans equipment to patients through its equipment pool, and sponsors conferences and support groups. "No parent is ever prepared to hear the news that their child may not walk, but to hear that your child may not live is an incomprehensible emotion. But this is a reality for many SMA families. The day to day struggles of life with a child with SMA take their toll, both financially and emotionally," Lewis said. "Now is the time to find the answers to keep these children alive, and we are proud to have funded such an important study that has given us more answers to this complicated puzzle." CONTACT: Audrey N. Lewis of Families of SMA, 800-886-1762, or after hours, 847-816-0594, or pager, 888-344-6988 |
