Fragile X Syndrome

• What is Fragile X syndrome?
• What causes Fragile X syndrome?
• What keeps the FMR1 gene from producing FMRP in Fragile X syndrome?
• Patient Discussions: Fragile X Syndrome - Describe Your Experience
• Human cells 101
• How many people are affected by Fragile X syndrome?
• How is Fragile X syndrome inherited?
• What are the signs and symptoms of Fragile X syndrome?
• Intelligence and learning
• Physical
• Social and emotional
• Speech and language
• Sensory
• Is there a cure for Fragile X syndrome?
• Are there treatments for Fragile X syndrome?
• Educational options
• Therapeutic options
• Medication options
• What are the options for adults who have Fragile X syndrome?
• What should I do if I find out someone in my family has Fragile X syndrome?
• What is being done to develop treatments or a cure for Fragile X syndrome?
• Where can I go for more information about Fragile X syndrome?
• The National Institute of Child Health and Human Development (NICHD)
• National organizations
• Additional resources
• References

Two Newlyweds Fight Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) One caregiver's story Reviewed by Melissa Conrad Stöppler, MD My name is Marcia*, but sometimes I call myself the "bride of FXTAS." FXTAS stands for Fragile-X Associated Tremor/Ataxia Syndrome, the degenerative neurological disorder that attacked my 64-year-old husband Henry* a month after we were married in 1999. The first noticeable symptom was that Henry fell down while playing golf—medics were called and could find nothing apparently wrong with Henry. It took over five years of worsening symptoms—including more frequent falls, difficulty walking, cognitive decline and incontinence—examinations by five neurologists and many diagnostic tests before Henry was diagnosed with FXTAS. For the seven-plus years of our marriage, I have been Henry's medical advocate, as his mind was failing, and his primary caregiver, since he gradually lost the ability to walk or do activities of daily living on his own. The journey to a diagnosis began when Doctor #1 suggested Henry might have Parkinson's because of his stiffness and falling; she did several tests and then just never returned our calls because she clearly didn't know what to say. Doctor #2 gave Henry two Parkinson's drugs, but they had no effect; his next guess was that Henry had some small strokes (per his MRIs) and he sent Henry to Doctor #3 for another opinion. Doc #3 said it was not strokes, but determined that Henry had a small amount of peripheral neuropathy in his legs; he just called the problems "old age" and prescribed physical therapy. Subsequently, after Henry had a bad fall resulting in a broken arm, we tried Doc #4, who couldn't diagnose Henry, so he called the condition multisystem atrophy, and prescribed more physical therapy. The therapist gave up on Henry since she couldn't figure out how to help him. She suggested we just get Henry a scooter to get around. *Names have been changed to maintain privacy. Read on as they await a diagnosis while coping with the symptoms of Henry's mystery illness » Top Searched Fragile X Syndrome Terms: symptoms, hereditary disorder, signs, treatment, causes, cure, info, risk factors

What is Fragile X syndrome?

Fragile X syndrome (also called Fragile X) is the most common inherited form of mental retardation.* It results from a change, or mutation, in a single gene, which can be passed from one generation to the next. Fragile X appears in families of every ethnic group and income level.

Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body's cells, especially cells in the brain, to develop and function normally. The amount and usability of this protein, in part, determine how severe the effects of Fragile X are.

The most noticeable and consistent effect of Fragile X is on intelligence. More than 80 percent of males with Fragile X have an IQ (intelligence quotient) of 75 or less.¹ The effect of Fragile X on intelligence is more variable in females. Some females have mental impairment, some have learning disabilities, and some have a normal IQ.

People with Fragile X syndrome also share certain medical problems as well as many common physical characteristics,² such as large ears and a long face. In addition, having Fragile X is often associated with problems with sensation, emotion, and behavior.

The National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH), is a major sponsor of research on Fragile X syndrome. Since 1991, when researchers funded by the NICHD discovered the gene that causes Fragile X, scientists have learned a great deal about that gene's structure and functions. The NICHD continues to support clinicians and scientists around the world who are working to find effective behavioral or other therapies, medical treatments, and prevention strategies for Fragile X.

* The NICHD recognizes that there is a debate about the use of the term "mental retardation," and that self-advocacy groups and professional associations are currently discussing alternative terms. Until a consensus is reached, and with the goal of addressing health-related issues faced by people with what has been traditionally known as "mental retardation," this article uses that term to describe some features related to Fragile X syndrome. For more information, please see the Additional Resources section of this article.

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