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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 |
| 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).
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).
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