Symptoms in Males

Both the type and severity of FXTAS symptoms vary among individuals. Some will have multiple symptoms that progress rapidly, others few symptoms that remain mild over many years. The most common symptoms in males are:

• “Intention” or “action” tremor (trembling hands that occur when one reaches for something or is otherwise using one’s hands. The tremor is not as noticeable at rest).
• Balance problems, called “ataxia,” which might result in occasional or frequent falls or the need for the person to hold on to a railing or cane.
• “Parkinsonism,” which can include general shaking of body parts, muscle rigidity, a shuffling gait and slowed speech.
• Cognitive/intellectual decline, including short-term memory loss, loss of math or spelling skills, difficulty making decisions, and other intellectual functions.
• Numbness or burning of the hands and feet (neuropathy).
• Low blood pressure (orthostatic hypotension).
• Personality or mood changes, which might include increased irritability, outbursts of anger, and inappropriate or impulsive behavior not typical of or consistent with the person’s previous personality.
• Difficulty with organizing, planning, anticipating, and carrying out of  everyday life tasks and activities (“executive function skills”).
• Difficulty learning new tasks.
• In advanced cases, loss of bowel or bladder control, impotence (autonomic dysfunction).
• Specific findings on a brain MRI called “increased signal intensity in the middle cerebellar peduncles (MCP) sign”. These findings are evident to neuroradiologists (radiologists with additional expertise in neurological conditions).
• Click here to see video of patient attempt at drawing a spiral; left and right hands.
• Click here to see video showing balance and gait problems

Symptoms in Females

Females can experience the same neurological symptoms as males, but almost always with less severity. Most affected women have some degree of tremor and/or ataxia. While the psychiatric and mood disorders are also less frequent in females, they are at higher risk for anxiety and depression in general. Additional symptoms affecting some females include:

• Fibromyalgia and/or generalized muscle pain.
• Thyroid disorders, usually hypothyroidism.
• Seizure disorders.

Contributed by: Liane Abrams, MS, CGC