Fragile X Syndrome Overview
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.
Rush University Medical Group
Elizabeth Berry-Kravis is a Pediatric Neurologist and a Pediatrics provider in Chicago, Illinois. Dr. Berry-Kravis is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Niemann-Pick Disease, Autism Spectrum Disorder, and Rett Syndrome. Dr. Berry-Kravis is currently accepting new patients.
Regents Of The University Of Michigan
Peter Todd is a Neurologist in Ann Arbor, Michigan. Dr. Todd is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. His top areas of expertise are Fragile X Syndrome, Fragile XE Syndrome, Hereditary Ataxia, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease). Dr. Todd is currently accepting new patients.
Maija Castren practices in Helsinki, Finland. Ms. Castren is rated as an Elite expert by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Autism Spectrum Disorder, Cardiac Arrest, and Seizures.
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...
Summary: There are more than 7000 known genetic disorders, and the number of affected is estimated to be about 6-10% of the population. Around 30 to 40% of genetic disorders have physical changes in the face and skull such as Down's syndrome or Fragile X syndrome. Therefore, the known facial phenotype of many genetic disorders is highly informative to clinical diagnosis. Since a large number of genetic dis...
Published Date: April 01, 2020
Published By: National Institutes of Health