At Rush, we have the first nationally recognized Fragile X Associated Tremor Ataxia Syndrome Clinic. This clinic is integrated with the Fragile X Syndrome clinic, which was started in 1991. The clinic is affiliated with specialists in movement disorders neurology, psychiatry, pediatrics, reproductive endocrinology, neuropsychology and physical therapy who have experience in working with fragile X premutation carriers.
What is FXTAS?
Fragile X-associated tremor ataxia syndrome (FXTAS) is a progressive neurological disorder that typically occurs in older men who are carriers of small expansions in the fragile X mental retardation gene. The disease was only recently discovered and can be seen frequently in fragile X syndrome families.
The symptoms of FXTAS include tremor, balance problems (ataxia), slowness of movement, memory issues and numbness of the feet. Although the disease was originally reported in men, it has now been described in women. Diagnosis of this disorder occurs by DNA analysis, which can be performed at Rush University or commercial laboratories. Genetic counseling is recommended as part of this process. The symptoms of FXTAS are treated individually as symptoms may vary from patient to patient, but clinical studies are ongoing to determine if there are medications that slow down the progression of disease. Medications used in other movement disorders or memory diseases are most frequently used in FXTAS.
- Comprehensive medical assessment and management of neurological disorders related to fragile X gene expansions
- Detailed memory testing and/or counseling from a specialized neuropsychologist
- Psychiatric care for anxiety and mood disorders
- Referral to reproductive endocrinology for fragile X primary ovarian insufficiency or fertility issues
Patients who are at risk or who have tested positive for a fragile X premutation or gray zone expansion may make an appointment. Additional appointments may be scheduled at the time of the initial visit, depending on the needs of each individual patient.
Deborah Hall, MD PhD, a board-certified neurologist with training in movement disorders and clinical research, directs the fragile X-associated tremor ataxia syndrome clinic at Rush. Hall has been working on issues related to fragile X-associated tremor ataxia syndrome for over 10 years, has been funded by the National Institutes of Health for work in this disease, and has received an award from the Fragile X Foundation for her research.
How can you help?
We look to our patients, families and friends to be donors to our fragile X associated disorders program. Due to the rare nature of these diseases, every dollar counts in helping us to advance our knowledge of these disorders and find appropriate treatments. When you designate your contribution amount, use the Gift Designation option to select Neurosciences and then click Fragile X-associated tremor ataxia syndrome. For more information on gift giving, please contact Bernadette O’Shea, our liaison officer for the Rush Philanthropy Office, at (312) 942-8710.