Eventually, genetic testing confirmed a diagnosis for Tyler: a complex neurological disease known as dystonia.
Dystonia causes involuntary muscle spasms that twist the body. Genetic forms of the disease generally begin in childhood and worsen throughout adolescence.
Tyler’s dystonia is caused by an inherited DNA mutation, and is known as DYT1 dystonia. Tyler has grown into an incredible young man, but at 16, involuntary dystonic movements make it challenging for him to walk, eat or even to speak. His sister, Samantha, has been diagnosed with the disease as well. Their younger brother is at risk.
Advances in dystonia research
Today, a breakthrough at the University of Michigan Health System is fueling hope that a treatment can be developed for dystonia.
William Dauer, MD, associate professor of neurology, leads a team that has been working to unravel the biological underpinnings of DYT1 dystonia since 1997, when the gene mutation that causes the disease was identified.
The gene mutated in DYT1 dystonia, named TOR1A, provides the body with instructions for making a protein called torsinA. TorsinA is essential for normal brain development, and the gene mutation blocks normal functioning of the protein. Dr. Dauer and others speculate that restoring torsinA function could delay or prevent the onset of symptoms — or even be an effective therapy for those already affected.
Testing those theories has been difficult until now. Dr. Dauer and his team have for the first time developed a mouse model that displays the key symptoms that characterize the human disease.
Making a difference
As Tyler, his sister Samantha, and their family moved along their journey living with dystonia, his parents, Rick and Michelle Staab, knew they wanted to do more to advance treatment for the disease. In 2005, they founded the Tyler’s Hope for a Dystonia Cure Foundation.
“Our mission is to advance research for a cure, discover effective treatments, and promote awareness and education about this devastating disorder,” says Richard Staab. “We don’t want any other child to have to experience what our children deal with as they combat dystonia every day.”
The Foundation has awarded Dr. Dauer’s lab at the University of Michigan a $625,000 grant to accelerate his team’s work. The grant will fund their current efforts to study the effects of torsinA replacement both before and after the onset of motor dysfunction. This award is part of a larger $2.5 million “Alignment Grant,” that will support researchers at the University of Florida and Duke University, who will work in tandem with U-M.
“The results of these studies will be essential for developing drugs for patients who suffer with dystonia today and those who are genetically at risk,” Dr. Dauer says. “The Staab family’s determination to find answers inspires us, and we’re grateful for their commitment to helping us succeed.”
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For more than 160 years, the University of Michigan Health System has been a national leader in advanced patient care, innovative research to improve human health and comprehensive education of physicians and medical scientists. The three U-M hospitals have been recognized numerous times for excellence in patient care, including a #1 ranking in Michigan and national rankings in many specialty areas by U.S. News & World Report.