
The fragile X premutation is characterized by 55-200 CGG repeats in the 5' untranslated region of FMR1, whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation spectrum of clinical involvement includes fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). In addition, premutation carriers also suffer from various other health problems such as endocrine abnormalities and autoimmune problems. In this paper, we have discussed different health issues faced by the carriers and interventions including medications, therapy and lifestyle changes that could improve their health.
570, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, fragile X mental retardation 1, Review, FXAND, Rare Diseases, Pharmacogenomics and Personalized Medicine, Clinical Research, 616, FMR1, FXPOI, Biomedical and Clinical Sciences, exercise, Neurosciences, fragile X premutation, Pharmacology and Pharmaceutical Sciences, Brain Disorders, antioxidants, Pharmacology and pharmaceutical sciences, Fragile X Syndrome, Neurological, medication, FXTAS
570, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, fragile X mental retardation 1, Review, FXAND, Rare Diseases, Pharmacogenomics and Personalized Medicine, Clinical Research, 616, FMR1, FXPOI, Biomedical and Clinical Sciences, exercise, Neurosciences, fragile X premutation, Pharmacology and Pharmaceutical Sciences, Brain Disorders, antioxidants, Pharmacology and pharmaceutical sciences, Fragile X Syndrome, Neurological, medication, FXTAS
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