Fragile X Associated Disorders: More than a Syndrome is proudly presented to you by The Arc. Thank you. We hope that you enjoy your course.
"This webinar discusses the spectrum of disorders associated with the FMR1 gene mutation: Fragile X Syndrome (FXS), Fragile X Primary Ovarian Insufficiency (FXPOI), and Fragile X Tremor Ataxia Syndrome (FXTAS). FXS is the leading known cause of autism and the most prevalent inheritable cause of intellectual disabilities. FXPOI affects 15-20% of women who have the premutation allele of the FMR1 gene and involves clinical features including irregular menses, reduced fertility and premature menopause. Also within the premutation range, the neurodegenerative condition known as FXTAS can occur in 46% of males and 17% of women. This webinar will provide a basic understanding of the FMR1 gene mutation, prevalence and clinical features of FX Associated Disorders. A discussion of the varied clinical presentations, associated health conditions and the most recent research on treatments is also included.Learning Objectives: The participant will be able to...Identify the three known disorders associated with Fragile XDiscuss the inheritance pattern and family involvement associated with Fragile XRecognize the varied clinical presentations of the full mutation, premutation and intermediate allele of the FMR1 geneRecognize management optionsDiscuss recent research regarding drug development and geneticsIdentify national resources"