Learn About Fragile X Syndrome

What is the definition of Fragile X Syndrome?

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

What are the causes of Fragile X Syndrome?

Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.

How prevalent is Fragile X Syndrome?

Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.

Is Fragile X Syndrome an inherited disorder?

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.

Who are the top Fragile X Syndrome Local Doctors?

University Of Penn - Medical Group

3400 Civic Ctr Blvd, Fl 2, 
Philadelphia, PA 
 (34.7 mi)
Languages Spoken:
English

Andrea Schneider is a Neurologist in Philadelphia, Pennsylvania. Dr. Schneider and is rated as a Distinguished provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Drug Induced Dyskinesia, Autism Spectrum Disorder, and Mosaicism.

Family Medicine
Family Medicine

Christiana Care Health Services Inc

501 W 14th St, 
Wilmington, DE 
 (11.6 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Tracey Petrides is a Family Medicine provider in Wilmington, Delaware. Dr. Petrides and is rated as an Experienced provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Moebius Syndrome, Down Syndrome, Cerebral Palsy, and Autism Spectrum Disorder. Dr. Petrides is currently accepting new patients.

 
 
 
 
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Internal Medicine
Internal Medicine
1020 Baltimore Pike, Suite 100, 
Glen Mills, PA 
 (17.7 mi)
Languages Spoken:
English

Tomi Mccann is an Internal Medicine provider in Glen Mills, Pennsylvania. Dr. Mccann and is rated as an Experienced provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are High Cholesterol, Cirrhosis, Xanthoma, and Familial Combined Hyperlipidemia.

What are the latest Fragile X Syndrome Clinical Trials?
A Stage 1 Pilot Test for Feasibility and Efficacy of a Multi-Level Intervention to Increase Physical Activity in Adults With Intellectual Disability: Physical Activity and Community EmPOWERment (PACE)

Summary: Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)/age-related dementias (ARD). Participants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recr...

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Safety and Tolerability of CTH120, First-in-human Phase I Study Encompassing Three Parts: Single and Multiple Ascending Doses and Potential Food Interaction

Summary: The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.

Who are the sources who wrote this article ?

Published Date: April 01, 2020
Published By: National Institutes of Health