About Fxas in women
Introduction
Fxtas is short form of Fragile X- associated tremor/ataxia syndrome which is a genetic disorder that mainly affects men but also affects a certain percentage of women. Fxtas is caused by a pre-mutation which is an increase in the number of CGG repeats that take place in the fragile X mental retardation gene that is known as FMR1 gene and is found on the X chromosome. Most women who suffer from the Fxtas syndrome inherit it from their fathers. The risk of developing Fxtas increases with age hence people who are above 50 years are more at risk of developing Fxtas which leads to intellectual disability.
Causes of Fxtas
Fxtas presents when there is a change in the fragile X gene which is known as the FMR1 gene and is found on the X chromosome. This change that occurs and ends up causing the Fxtas is known as the FMR1 or fragile X premutation. Women who have the FMR1 premutation are carriers of the Fxtas syndrome which means that they may not suffer from any symptoms but they may end up passing the FMR1 premutation to their children. The FMR1 premutation affects the pattern of a DNA known as the CGG repeats which are normally 54 of them in the FMR1 gene. The FMR1 premutation causes there to be 55 - 200 CGG repeats hence a premutation occurs. If the CGG are over 200, then it means that there is a full mutation. The people who have a full mutation are not always at risk of suffering from Fxtas but may sometimes suffer from the fragile X syndrome. Women can have either a premutation or a full mutation but the ones who have the full mutation have high chances of showing some effects as a result of the mutation. Women in the two cases can pass the mutation to their children and the severity of the risk depends on the number of CGG repeats.
Features of fxtas in women
The symptoms and signs of Fxtas often occur during the older age of about 50-60 years of age. The more the CGG repeats, the more severe the symptoms will be. W omen with the premutation tend to have less severe symptoms due to the protection offered by the presence of another X chromosome but they often have early menopause, ovarian dysfunction or infertility.
In most cases, the first symptom to appear is tremor that is followed by ataxia within a period of around two years. After this, other symptoms which include; reduced facial expressions, stiffness and sudden slow movements tend to occur. Other symptoms include cognitive impairment like the loss of memory, difficulty in problem solving and slowed thought. These cognitive problems may sometimes develop to become dementia, hostility, depression and anxiety. Feet reflex and sensation may be lost and in the late stage, bowel and bladder control is lost.
Diagnosis and treat ment of Fxtas
Diagnosis
The best way to diagnose Fxtas is conducted a genetic test to confirm the mutation of the FMR1 gene which should be backed by a study of the family's history of any conditions related to the Fxtas. An MRI scan can show the middle cerebellar peduncles which in most cases is caused by the presence of the Fxtas.
Treatment
The main aim of the treatments that are prescribed for the Fxtas patients is to manage the symptoms present, slow the progression of the Fxtas disease and to cure Fxtas. However, there is no known cure for Fxtas as at now but there are medications that reduce the symptoms like tremors. The right treatment to reduce the onset of the symptoms, genetic counseling and psychological counseling which should be backed by family support are the best treatment therapies that can be given to an Fxtas patient.
