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Treatment

There are three purposes of therapy for FXTAS:  to reduce symptoms, to slow the progression of disease, and to cure disease. While there are no known treatments to slow progression or cure FXTAS, intense research is being done in this regard. There are a number of treatments that many affected persons have found helpful in reducing symptoms and disability.

In general, therapy that is most likely to help in any disease has been tested in well designed and executed clinical trials. However, FXTAS was only first published in 2001, so there has not yet been any treatments studied well enough to know if they definitely help. Until we have proven therapies for FXTAS, it is reasonable to consider treatments that have been shown to reduce the same symptoms when they occur in other diseases. For example, many persons with FXTAS and shaking in their hands (tremor) will find that taking a medication that reduces hand shaking in another disease, e.g., essential tremor, is helpful.

Each person with FXTAS is unique; each will have their own set of problems. While most will have hand shaking and balance problems, these will vary in severity and the need for treatment. Further, each affected person has a unique medical history, biological make-up and personality. The symptoms of FXTAS are known to vary from one person to another; so the best treatment options vary from person to person.

Useful treatments for FXTAS include medications, psychological and genetic counseling, rehabilitative treatments such as speech, occupational and physical therapy, gait training and surgery. Family supportive services and counseling are important also. While many of the FXTAS symptoms are neurological, many other body systems are also affected. To receive optimal care it is best to have a medical care team that is knowledgeable about FXTAS. The team should include a neurologist and primary care physician at a minimum. Other specialists, e.g. in the areas of psychiatry, psychology, rehabilitation, urology, cardiology, and movement disorders neurology, may also be needed. The following article describes the current knowledge of treatment of FXTAS.

Contributed by: Maureen A. Leehey, MD

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