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SOURCE Alternating Hemiplegia of Childhood Foundation
- University Opens Alternating Hemiplegia of Childhood Clinic -
SOUTHFIELD, Mich., Feb. 26, 2014 /PRNewswire-USNewswire/ -- Vanderbilt University in Nashville, Tenn., has opened an Alternating Hemiplegia of Childhood (AHC) clinic. The facility is a multi-disciplinary clinic to help children affected with this rare disease that causes sporadic paralysis of the limbs and a range of other developmental challenges. The AHC clinic is the outgrowth of Vanderbilt's leading research into the condition and should help to further the development of new treatments.
AHC is found in roughly 800 people worldwide. It is believed that far more patients are affected by the disorder, but are not properly diagnosed due to a lack of knowledge in the medical community of AHC and its symptomology. While symptoms vary, AHC patients can experience debilitating muscle contractions, developmental delays, trouble walking and seizures, among other challenges. The disorder typically begins prior to 18 months of age, but despite the name, it usually lasts throughout one's life.
Kevin C. Ess, MD, PhD, director of the AHC clinic at the Monroe Carell Jr. Children's Hospital at Vanderbilt and Chief of the Division of Pediatric Neurology at Vanderbilt said, "My AHC involvement started with a research collaboration with Dr. Al George at Vanderbilt and Dr. Kathy Swoboda at the University of Utah. Using AHCF funding, we studied the functional impact of patient-specific mutations in the ATP1A3 gene, and it became clear that an organized clinic for children with AHC would not only help optimize care for these patients, but also allow us to better refine our outstanding research questions. This is particularly important as the relatively new technology of studying the generation of patient-derived stem cells allows us to make and analyze neurons from patients with AHC.
"It is the beginning of a new, exciting chapter for AHC that will hopefully lead to the design of innovative, better therapies."
Founded in 1993, the AHC Foundation (AHCF) is a nonprofit, parent-led organization. In 2013, following the discovery of the mutated gene that causes the disorder, the foundation began working with Vanderbilt University in further research toward a cure.
"We are very excited that Dr. Ess wanted to open this multidisciplinary clinic. It is an invaluable resource for families to have these physicians and researchers, who are at the forefront of AHC research, caring for children with this rare disease. It will improve the quality of care for our children while speeding the search for new and better treatments," said Lynn Egan, mother of a child with AHC and AHCF President.
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