CHAPEL HILL, N.C. (Ivanhoe Newswire) — Call it a medical mystery solved by science. Years after one woman lost the ability to walk, cutting-edge research helped her get back on her feet and put down her crutches for good.
Elizabeth Davis never thought one day she would be able to play catch with her dog molly.
Davis explained, “At six years old, I started walking on my toes, and that’s where it started.”
By age 14, Elizabeth needed crutches to get around. She had five surgeries on her feet, but nothing worked.
Davis continued to tell Ivanhoe, “I didn’t go to the movies; I didn’t go to the mall. No, I missed out on a lot.”
And worse, no one could tell her what was wrong. Until she met geneticist Jim Evans.
Jim Evans, MD, PhD, Bryson Distinguished Professor, Genetics and Medicine at UNC Chapel Hill said, “That’s what we were really interested in doing; to figure out how we can use this technology to benefit patients.”
UNC researchers analyzed the genomes of more than 600 patients who most likely had a genetic disease, but never received a diagnosis like Elizabeth.
Doctor Evans stated, “The results exceeded our expectations!”
After 30 years, Elizabeth finally got her diagnosis.
Davis said, “Dopa-responsive dystonia. Well, my life changed after that. That’s it, my life changed.”
Three days after Elizabeth was put on a medication to treat the disorder that causes involuntary muscle contractions, something amazing happened.
“All of a sudden I felt my toes, and I can move them, I moved them,” Davis explained.
“She can now walk without crutches. It’s the kind of moment you spend a whole career in research hoping to see,” said Doctor Evans.
Doctor Evans says with more genetic research, this is a sign of things to come.
Davis continued, “It’s changed my life, and how I feel, terrific.”
Giving hope to those still looking for an answer.
UNC Chapel Hill is now conducting phase two of the study thanks to a grant from the National Institutes of Health. If patients think they have a disease that is genetic and want to get involved in the research please visit the American College of Medical Genetics and Genomics at acmg.org or med.unc.edu.
Contributors to this news report include: Janna Ross, Field Producer; Cyndy McGrath, Supervising Producer; Gabriella Battistiol, Assistant Producer; Roque Correa, Videographer and Editor.
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TOPIC: BACK ON HER FEET AFTER FIVE SURGERIES
REPORT: MB #4383
DOPA-RESPONSIVE DYSTONIA: This is a genetic disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements. The symptoms of this disease can range from mild to severe. Signs of this specific type of dystonia usually manifest around age 6, and it is called dopa-responsive because the symptoms usually improve with the controlled use of a medication called L-Dopa. One of the most common signs of this disease are inward and upward turning feet, and dystonia of the lower limbs. Over time, the dystonia spreads to the upper limbs, and individuals with this disease might have trouble coordinating when running or walking. Other signs of this condition are insomnia and frequent depression. As the condition worsens, individuals may experience a decrease in the speed of their movements, tremors, and the inability to hold the body upright. Normally, the movement issues associated with dopa-responsive dystonia will not appear until adulthood.
DIAGNOSING: Because the symptoms of dopa-responsive dystonia often do not manifest until adulthood, it can be difficult to diagnose. If the symptoms appear late enough in an individual’s life, they may just attribute the symptoms to old age, without a proper diagnosis. Close monitoring of the symptoms and proper research can be essential in diagnosing this disease. If signs of the disorder are showing, it is imperative that a physician be notified so that the individual be diagnosed, and given the correct treatment. In order to ensure the most accurate diagnosis of dopa-responsive dystonia, patients are given blood tests and spinal fluid tests can be given. One can also diagnose this disease using the Genetic Testing Registry (GTR), through which they can find the genetic tests for this specific condition.
NEW TECHNOLOGY: Through genome analyzing, DNA research, and comparing conditions with other patients, doctors are now able to determine that dopa-responsive dystonia is a genetic disease, and sometimes even hereditary. According to researchers at the University of North Carolina, research conducted on a specific patient with severe dystonia showed a particular change in a gene called the GTP cyclohydrolase one gene. It was this gene that had been previously identified as one that responded to a medication called dopa. Being that dopa is a common medication, it was easy for doctors to determine a course of treatment for this patient, which led to a full recovery and the patient’s restored ability to walk without crutches or a wheelchair.
(Source: Jim Evans, MD, PhD)
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