Panelists Drs. David Hessl, Emily Allen, Deborah Hall and Randi Hagerman share their expertise on the Fragile X premutation at the 18th International Fragile X Conference.
This webinar provides a clinical overview of the diagnosis and treatment of FXTAS, including a summary of its clinical features, treatment options, and information about in-vitro fertilization.
Panelists Randi Hagerman, Heather Hipp, Emily Allen, and Marsha Mailick helps answer what it means for your health, your family, and your future at the 17th International Fragile X Conference.
Dr. Randi Hagerman joins us to discuss the latest information and research on premutation carriers. The recording includes the Q&A session following her presentation.
Emily Allen discusses some of the health concerns of women who are premutation carriers and shares research findings from her group at Emory University.
Neurologists Drs. Deborah Hall and Maureen Leehey provide an overview of FXTAS, a summary of the clinical features in the disease, and treatment options, including surgery, for FXTAS patients.
Care for women with FXPOI who struggle with infertility and the health effects of early onset ovarian insufficiency, including hot flushes, night sweats, and risks of osteoporosis.
Steve was diagnosed with FXTAS 8 years ago, and since then, he and his family have provided significant financial support to FXTAS programming at the NFXF. They are supporting our goal to build a worldwide consortium of FXTAS clinics to help improve the rate of diagnosis and the delivery of current treatments. This will also set us up to be ready to conduct future clinical trials for new treatments.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a disorder that affects Fragile X premutation carriers, typically over the age of 55. Individuals with FXTAS have tremor of their hands when they are using their hands to do activities. They also have difficulty with their walking, appearing as if they were drunk even though they are sober. As the disease progresses over time, people with FXTAS can develop problems with memory and loss of sensation in the feet. Symptoms are highly variable, with some FXTAS patients having more severe tremor and others having more balance issues. Women tend to be more mildly affected, if they are affected at all, due to the typical presence of a normal Fragile X gene on their second chromosome.