What do you know about Fragile X syndrome
Fragile X syndrome is considered as a disorder, which creates its impact on the genes that are X-, linked & it mainly happens due to the developmental as well as intellectual inabilities & it is even associated with the behavioural issues. The medical experts term this form of disorder as Martin- Bell syndrome & also as marker X- syndrome.
It is said that the cell of the human body is characterized by dual sex chromosomes. The female body possesses X-chromosomes in every cell whereas the male possesses one X & Y chromosome separately. Such type of disorders mainly happen due to the mutation that is caused in the FMR1 gene & this is said to be situated in the X- chromosome.
It is said that due to such faulty mechanism, the human body is unable for the production of an essential protein, which is termed as fragile X- mental retardation 1 protein that is abbreviated as FMRP. This protein is considered to be extremely important since it marks great importance for the functioning of the nerves. It has been observed that in certain cases, there is less amount of such production of the similar protein.
These types of disorders hardly create any influence, but till date, it has been explained that males are more susceptible for such results caused due to these mutation. Females on the contrary, suffer from such disorders, but the impact over their health is definitely less.
The people possessing fragile X- syndrome experience certain indications, which include mental retardation, hyperactivity, behavioural mannerisms like autism, etc. The features of such individuals are also distinct which include large circumference of the head, flat feet; mitral valve (a defect in the heart valve) also makes its presence.
Such patients are bound to possess permutation & it could even lead for transmission of the similar condition to the offspring & the similar conditions could be detected in the offspring.
Diagnosis of such type of disorders could be efficiently conducted with the help of genetic tests & even the curing involves undergoing therapeutic treatments of the behavioural mannerisms & occupational therapy. Prior to this the entire medical as well as family history must be examined by the heath expert.
Treatment measures usually depend upon the severity of the condition of the patient. Even the counselling for the genetic aspects has indeed proved to be immensely beneficial for the patients who have been dealing hard from such sufferings.
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