Tracy Stackhouse Speaks to Fragile X Caregivers (original) (raw)

Diagnosis and Treatment of Fragile X-Associated Tremor Ataxia Syndrome — Presentation

Presented by Deborah A. Hall, MD, PhD

Fragile X-associated tremor/ataxia syndrome (FXTAS) can occur in men and women with the FX premutation when they are over the age of 55. It’s associated with tremors, balance problems, and other neurological signs. This webinar provides an overview of the diagnosis and treatment of FXTAS, including a summary of its clinical features, treatment options, and information about in-vitro fertilization with pre-implantation genetic testing on their embryos if they do not want to pass on the mutation to a child.

Patients, caregivers, junior researchers, and others may benefit from the material in this presentation from neurologist Dr. Deborah Hall, neurologist and professor at the Rush Medical College Department of Neurological Sciences. Dr. Hall has treated FXTAS patients over the last two decades. This presentation was recorded on July 22, 2022, at the 18th International Fragile X Conference.

Also, read an in-depth summary of this presentation by 2022 NFXF Junior Investigator Dr. Michelle Tosin.

Presenter: Deborah Hall, MD, PhD
Runtime: 1:09:07

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About the Speaker

Deborah A. Hall, MD, PhD

Rush University Medical Center

Dr. Deborah Hall is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago. She has training in genetics, epidemiology, and human subjects research. She conducts research primarily in two areas: Her work in Parkinson’s disease focuses on early interventions, such as neurotrophic factors and exercise, genetics and genomic causes of disease, and treatment for complications including falls. She also researches ataxia, specifically Fragile X-associated disorders, by investigating epidemiology, clinical features of movement and balance, and interventions.

She has been funded by the National Institutes of Health for the last 10 years as a primary investigator. She has a busy clinical practice focused on movement disorders within the Department of Neurological Sciences at Rush. She is the director of the FXTAS Clinic and the Movement Disorder DNA Repository within the Section of Movement Disorders at Rush. Dr. Hall received her doctorate from Indiana University and her master’s from the University of Colorado, where she completed her residency and fellowship.

Learn More

FXTAS Resources
The Fragile X-associated disorder, Fragile X-associated tremor/ataxia syndrome, known more commonly as FXTAS (fax-tass) can occur in individuals with the Fragile X premutation. FXTAS is an adult-onset neurodegenerative disorder, more common in males than females over 50 years of age with the Fragile X premutation. FXTAS is associated with tremors, balance problems, and other neurological signs. FXTAS progresses at varying rates in different individuals.