Symptoms include intellectual disability, behavioral and learning challenges, and various physical characteristics. Males are more frequently affected, and generally with greater severity. Traditionally, a carrier of a genetic mutation is defined as a person who inherits an altered form of a gene but shows no effects of that mutation.
Premutation carriers of an FMR1 gene mutation can have no apparent signs of a Fragile X disorder, and may or may not develop FXTAS pronounced: FAKS-taz , which usually occurs in male premutation carriers after age 50, with symptoms — including balance, tremor, and memory problems — worsening with age.
Premutation carriers of an FMR1 gene mutation can have no apparent signs of a Fragile X disorder, and may or may not develop FXPOI pronounced: FAKS-poi , which usually occurs in female premutation carriers after age 40, and refers to a spectrum of impaired ovarian functions that can include infertility and early menopause.
Fragile X-associated disorders include a wide range of physical, intellectual, and behavioral symptoms that can affect family members in many different ways. These conditions are passed down in families through expansions of the FMR1 gene. In some cases, however, individuals with a premutation have lower than normal amounts of FMRP. As a result, they may have mild versions of the physical features seen in fragile X syndrome such as prominent ears and may experience emotional problems such as anxiety or depression.
Some children with an FMR1 premutation may have learning disabilities or autistic-like behavior. Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The Y chromosome is the other sex chromosome. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.
X-linked dominant means that in females who have two X chromosomes , a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males who have only one X chromosome , a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.
This means that women with the premutation have an increased risk of having a child with fragile X syndrome. By contrast, the premutation in men does not expand to more than repeats as it is passed to the next generation.
Men pass the premutation only to their daughters. Their sons receive a Y chromosome, which does not include the FMR1 gene. Genetics Home Reference has merged with MedlinePlus.
Prognosis Prognosis. Life expectancy for people with fragile X syndrome is generally normal. Many affected people participate in an active lifestyle and have good health. Regular medical checkups and awareness of increased health risks may improve the outlook for affected people. Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.
You can also learn more about genetic consultations from MedlinePlus Genetics. Related Diseases Related Diseases. Conditions with similar signs and symptoms from Orphanet. The differential diagnosis includes other X-linked intellectual deficiencies, Sotos syndrome, microdeletion syndromes e. Visit the Orphanet disease page for more information. Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials.
We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. The National Fragile X Foundation provides a state by state list of clinical trials involving fragile X-associated disorders. Click on National Fragile X Foundation to view the list. Look through the list to find study opportunities near you.
Patient Registry A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Fragile X syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.
Some registries collect contact information while others collect more detailed medical information. Learn more about registries. Organizations Organizations. Organizations Supporting this Disease. Organizations Providing General Support. Do you know of an organization? Living With Living With. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.
Learn More Learn More. MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. This website is maintained by the National Library of Medicine.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. Orphanet is a European reference portal for information on rare diseases and orphan drugs.
Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Fragile X syndrome. Click on the link to view a sample search on this topic.
Submit a new question If a child might have had this disorder and was never diagnosed, how does it affect him or her in adulthood? See answer Are individuals with Fragile X syndrome at a higher risk for fractures than individuals without Fragile X? See answer Have a question? References References. Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional.
The information and materials contained on this website are not intended to constitute a comprehensive guide concerning all aspects of the therapy, product or treatment described on the website.
All users are urged to always seek advice from a registered health care professional for diagnosis and answers to their medical questions and to ascertain whether the particular therapy, service, product or treatment described on the website is suitable in their circumstances. The State of Victoria and the Department of Health shall not bear any liability for reliance by any user on the materials contained on this website.
Skip to main content. Genetic conditions. Home Genetic conditions. Fragile X syndrome. Actions for this page Listen Print. Summary Read the full fact sheet. On this page. Effects of Fragile X syndrome Fragile X syndrome can cause a range of physical, developmental, behavioural and emotional difficulties in people.
The most significant effects of Fragile X syndrome are: global developmental delay, including speech, language and communication difficulties intellectual disability and learning problems anxiety autism-like behaviours such as hand flapping, repeating words and sentences, and difficulty with social interactions attention deficit hyperactivity disorder ADHD poor eye contact difficulty processing sensory information.
Carriers of the Fragile X gene Although Fragile X syndrome is not that common, affecting around 1 in 3, boys and between 1 in 4, — 6, girls, the number of men and women who are carriers of the Fragile X gene is significantly higher.
Testing and diagnosis of Fragile X syndrome Fragile X syndrome and Fragile X-associated disorders can only be diagnosed by DNA testing — usually by a blood test but sometimes via cheek swab or mouthwash. DNA testing is recommended for: people with a family history of Fragile X syndrome or intellectual disability people with intellectual disability, developmental delay or learning disability together with features of Fragile X syndrome such as anxiety, ADHD or characteristics of autism spectrum disorder men or women over 50 with balance or gait problems, tremor or dementia any woman with problems with fertility or early menopause under 40 women with family history of primary ovarian insufficiency loss of function of the ovaries before age 40 for testing before or during pregnancy.
Genetic counselling services and Fragile X syndrome The facts about Fragile X syndrome are complicated and the ramifications for families can be serious.
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