For the Doctor

Physicians practicing in a number of disciplines may encounter patients who are potentially at risk for or have been diagnosed with FXTAS. Given the multi-system nature of this condition, a patient may be under the care of multiple or varying specialists. These include but are not limited to:

Neurologists (for tremor, ataxia, memory loss)
Psychiatrists (personality change, depression, mood disorders)
Psychologists (cognitive impairment)
Movement disorders specialists (tremor, ataxia)
Medical geneticists (any of the above, positive family history)
Internists, Urologists (hypertension) (impotence)
Orthopedists (neuropathy, gait abnormalities)
Physiatrists (rehabilitation)

Since FXTAS shares many symptoms with other conditions, patients with FXTAS are often misdiagnosed with Parkinson’s disease, Alzheimer’s, psychiatric disorders, dementia, stroke, other ataxias, and peripheral neuropathy.

If a patient has any of the symptoms of FXTAS, it is imperative to establish their FMR1 status. This is done by ordering the FMR1 DNA test.

There is a systematic diagnostic protocol for FXTAS developed by specialists around the globe. In order to utilize this diagnostic criteria, the patient should have FMR 1 testing, brain MRI imaging, and have a neurological evaluation.

Because patients with FXTAS may have family members with either fragile X syndrome (FXS) or Fragile X-associated primary ovarian insufficiency (FXPOI), physicians should take a family history and inquire about the following:

Adult onset neurological symptoms described in FXTAS in other adult family members
Female relatives with infertility or early menopause
Male and female relatives with intellectual disability, autism, developmental, behavioral, language or learning disorders

Next Steps

Consensus of the Fragile X Clinical & Research Consortium on Clinical Practices
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
If you are a physician whose primary patient population does not include those with movement disorders or neurological problems (such as a urologist, internist, orthopedist, etc.), any patient with symptoms similar to FXTAS should be referred to a neurologist or movement disorders specialist.
If FXTAS is confirmed in your patient, genetic counseling by a board-certified genetic counselor is highly recommended. The children, grandchildren and other relatives of the patient may be at risk for Fragile X-associated Disorders (FXD) and positive carrier status. Additionally, there are often female relatives who unknowingly may have Fragile X-associated primary ovarian insufficiency and are undergoing expensive and extensive fertility treatments not knowing they are at risk to have a child with fragile X syndrome.
Most metropolitan and many community medical centers employ genetic counselors. If there is not one in your referral network you can find one through the National Society of Genetic Counselors (www.nsgc.org).
There are clinics around the country dedicated to serving those with one of the Fragile X- associated Disorders. Patients can be referred to the clinic nearest them. Go to the clinics page on www.fragilex.org to find a clinic nearest your patient and/or their family.

For more medical information and important articles pertaining to FXTAS click here.

Contributed by: Liane Abrams, MS, CGC