Fragile X Syndrome

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Basics

• Summary
• Start Here
• Symptoms
• Diagnosis and Tests
• Treatments and Therapies

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• Related Issues
• Genetics

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• Clinical Trials
• Journal Articles

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Summary

Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X.

People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include:

• Intelligence problems, ranging from learning disabilities to severe intellectual disabilities
• Social and emotional problems, such as aggression in boys or shyness in girls
• Speech and language problems, especially in boys

A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help.

NIH: National Institute of Child Health and Human Development

Start Here

• Fragile X Syndrome (Eunice Kennedy Shriver National Institute of Child Health and Human Development)
• Fragile X-Associated Disorders (FXD): A Handbook for Families, Health Care Providers, Counselors, and Educators (National Fragile X Foundation) - PDF
• Learning about Fragile X Syndrome (National Human Genome Research Institute)
• What Should You Know about Fragile X Syndrome (FXS)? (Centers for Disease Control and Prevention)

Symptoms

• Features of Fragile X Syndrome (National Fragile X Foundation)
• What Are the Symptoms of Fragile X Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Diagnosis and Tests

• How Do Health Care Providers Diagnose Fragile X Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Treatments and Therapies

• What Are the Treatments for Fragile X Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Related Issues

• Fragile X Syndrome and Autism (National Fragile X Foundation)
• Fragile X Syndrome: Other FAQs (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
• Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): Condition Information (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
• Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS) (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Genetics

• Fragile X syndrome: MedlinePlus Genetics (National Library of Medicine)
• What It Means to be a Carrier (National Fragile X Foundation)

Clinical Trials

• ClinicalTrials.gov: Fragile X Syndrome (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.
• Article: Interneuron Dysfunction and Inhibitory Deficits in Autism and Fragile X Syndrome.
• Article: Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with...
• Fragile X Syndrome -- see more articles

Find an Expert

• Eunice Kennedy Shriver National Institute of Child Health and Human Development Also in Spanish

Women

• Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) (National Fragile X Foundation)

Patient Handouts

• Fragile X syndrome (Medical Encyclopedia) Also in Spanish