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Fragile X-Associated Tremor/Ataxia Syndrome

Dr. Linette van Niekerk | Clinical
Fragile X-Associated Tremor/Ataxia Syndrome

Topic / Title of the Talk Fragile X-Associated Tremor/Ataxia Syndrome
Field of Medicine Neurology
Length of the Talk 12 Mins
CPD Accreditation No. MDB015/MPDP/070/486
Category of the Talk Overview
CPD Type Clinical | Subscription CPD
Languages (Translations) & Subtitles Not Translated
Speaker Dr. Linette van Niekerk
Talk Description
A brief overview on Fragile X-Associated Tremor/Ataxia Syndrome to create awareness amongst Neurologists and other healthcare professionals about this frequently missed/ misdiagnosed condition affecting patients with the Fragile X premutation. This talk was delivered as part of an Ampath Webinar on Fragile X Syndrome Awareness. Fragile X syndrome is one of a number of clinical disorders associated with mutations in the FMR1 gene. Fragile X syndrome is the most common single-gene cause of intellectual disability worldwide. As many as 1 in 151 women and 1 in 468 men carry a premutation in this gene and carriers are at increased risk of Fragile X-associated tremor ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).

Fragile X-Associated Tremor/Ataxia Syndrome | Neurology