Programs & Services

In this webinar Dr.Robyn Filipink and Dr.Rebecca Kronk will discuss 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 will be included.

Learning Objectives:

The participant will be able to:

1. Identify the 3 known disorders associated with Fragile X.

2. Discuss the inheritance pattern and family involvement associated with Fragile X.

3. Recognize the varied clinical presentations of the full mutation, premutation and intermediate allele of the FMR1 gene.

4.Recognize management options.

5.Discuss recent research regarding drug development and genetics.

6. Identify national resources.

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