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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
Migraine prophylaxis, mania, epilepsy, fragile X syndrome (orphan), familial adenomatous polyposis (orphan) and the following off-label uses: cervical cancer, melanoma, mesothelioma, acute myeloid leukaemia and myelodysplastic syndrome.
Emestedastat (proposed brand name Xanamem; developmental code name UE-2343) is a steroidogenesis inhibitor which is under development for the treatment of major depressive disorder, Alzheimer's disease, and fragile X syndrome.
Befiradol (also known as NLX-112) is targeted to the treatment of movement disorders, notably dyskinesia in Parkinson's disease, whereas F-15599 (also known as NLX-101) is intended for the treatment of autism spectrum disorders including Rett syndrome and Fragile X syndrome.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [ 4 ] [ 5 ] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor .
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
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Fountain syndrome; Foville's syndrome; Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Franceschetti–Klein syndrome; Frank–ter Haar syndrome; Fraser syndrome; Frasier syndrome; Freeman–Sheldon syndrome; Frey's syndrome; Froin's syndrome; Fryns syndrome; Functional somatic syndrome