Fragile X SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.
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.
East Ann Arbor Health & Geriatrics Center
Peter Todd is a Neurologist practicing medicine in Ann Arbor, Michigan. Dr. Todd is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Fragile X Syndrome, Fragile XE Syndrome, Hereditary Ataxia, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease). Dr. Todd is board certified in Neurology. Dr. Todd is currently accepting new patients.
Rush University Medical Center
Elizabeth Berry-Kravis is a Pediatric Neurologist practicing medicine in Chicago, Illinois. Dr. Berry-Kravis is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Fragile X Syndrome, Autism Spectrum Disorder, Rett Syndrome, and Angelman Syndrome. Dr. Berry-Kravis is currently accepting new patients.
Cincinnati Childrens College Hill Campus
Craig Erickson is a Child and Adolescent Psychiatrist practicing medicine in Cincinnati, Ohio. Dr. Erickson is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Fragile X Syndrome, Autism Spectrum Disorder, Angelman Syndrome, and Fragile XE Syndrome. Dr. Erickson is currently accepting new patients.
Summary: This study focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD). Most individuals with FXS have moderate to severe intellectual disability (ID), and caregivers are mainly concerned about aggressive behavior and anxiety problems. Since FXS individuals have a normal lifes...
Summary: This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive). In addition, a parallel cohort of participants ages 13 to \<16 will receive open-label MRM-3379. All participants will participate for 12 weeks of treatment. The study is also intended as...
Published Date: April 01, 2020
Published By: National Institutes of Health