Fragile X Syndrome
(Martin-Bell Syndrome; FXS)
Fragile X syndrome (FXS) is a genetic problem that results in intellectual disability.
Copyright © 2002 Nucleus Communications, Inc. All rights reserved.http://services.epnet.com/getimage.aspx?imageiid=23972397si55551132.jpgAreas of the Brain Affected by Alzheimer's DiseaseNULLjpgAreas of the Brain Affected by Alzheimer's DiseaseNULL\\filer01\Intellect\images\si55551132.jpgCopyright © 2002 Nucleus Communications, Inc. All rights reserved.24NULL2002-10-012553912397_1536Copyright © Nucleus Medical Media, Inc.
FXS is inherited from parents. It is caused by problems with the FMR1 gene. These problems stop the fragile X mental retardation protein (FMRP) from developing. This protein is needed to make connections in the brain.
The risk of this problem is higher in people who have a family history of the faulty FMR1 gene.
Problems are different from person to person. They happen less often and are mild in females. Problems may be:
- Learning problems
- Slowed development
- Speech problems
- Behavioral problems, such as:
- Mood swings
- Being very sensitive to loud noises or bright lights
- Extreme shyness, especially in girls
- Physical problems, such as:
- A long face with a jaw that sticks out
- Large ears
- Flat feet
- Joints that bend past normal limits
- A high-pitched voice and enlarged testes in males after puberty
- Floppy muscles
- Problems with motor skills like sitting and walking
The doctor will ask about your child's symptoms and health history. A physical exam will be done.
The diagnosis can be confirmed with a genetic test.
There is no cure for FXS. The goal is to manage symptoms. Choices are:
- Medicines, such as:
- Stimulants to treat attention and behavior problems
- Medicine to control mental health problems
- Antiseizure medicines
- Speech, occupational, physical, or behavioral therapy
- Special education services to help with learning
There are no known guidelines to prevent this health problem.
- Fragile X syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/fragile-x-syndrome. Accessed November 4, 2020.
- Fragile X syndrome overview. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/fragilex/Pages/default.aspx. Accessed November 4, 2020.
- Lozano R, Azarang A, et al. Fragile X syndrome: A review of clinical management. Intractable Rare Dis Res. 2016 Aug;5(3):145-157.
- What is fragile X? FRAXA Research Foundation website. Available at: http://www.fraxa.org/fragilex. Accessed November 4, 2020.
- Kari Kassir, MD
(C) Copyright 2022 EBSCO Information Services
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
To send comments or feedback to our Editorial Team regarding the content please email us at email@example.com.