by diseases | March 2, 2019 11:02 pm
It is defined as a disorder in which there is a genetic problem. It is also known as the Martin Bell Syndrome. It causes multiple disorders which include the physical as well as intellectual limitations. It also involves the behavior as well as emotional features which range from the mild to severe manifestations. It is in link with the increase in size of gene sequence which is present on the X chromosome. It leads to failure to express th gene which helps in the normal development of neurons. There are different states of the chromosomes which are in relation to the repeated sequence of gene. It can be normal, pre maturation, full maturation and intermediate. It is also known as the x linked mental disorder in which the large testicles are not considered. It was described in the year 1943 by martin and bell. It is also known as the fragile site. There is another syndrome which resembles it and is known as the renpennings syndrome. In this case there is no fragile site present on the x chromosome. It leads to short height, average head and the disorders present in brain. There is other syndrome which resembles this and is known as the escalantes syndrome. It is used in the countries like Brazil or South America.
It includes the problem in intelligence, the face is long and there are large ears as well as the testes. The muscle tone is quite low. The speech is not normal and is nervous. The behavior is affected a lot. The fleet is flat. One has the habit of hand flapping and is quite shy. He has a limited eye contact and difficulty in memorizing the things. There is a problem with the encoding of face. The features resemble those of autism. It is more severe in the case of males but in females it is less severe as their second x chromosome can develop very severe symptoms. There are a lot of similarities between the x linked inherited disorder and this syndrome. The males with full mutations develop a lot of problem in the intelligence. The full mutations females can also develop the severe symptoms later on. This is the reason females are diagnosed later on in their life. If a male child is affected the females act as a carrier. The female child with a fragile as well as normal chromosome inherits the fragile chromosome. It is taken from the father.
It includes the use of visual examination and a patient history. In this case the cells are cultured in the folate deficiency medium. The culture is assessed for the breakage of x chromosome. It is done by the process of cyto genetic analysis in case of the long arm of chromosome. But this technique is not reliable. One can also go for the southern bolt analysis as well as the digestion known by restriction endo nuclease. The individuals with this disorder have different signs as well as symptoms. The people from the same family also have different signs as well as symptoms. They are put into different categories. It includes the social, physical, sensory along with the speech and language. The other disorders are linked with this syndrome.
It is a genetic disorder in which there is a mutation on the gene caused by the x chromosome. The mutation is quite common in the males as compared to females. The responsible gene has a repeat of the codons. The people with this syndrome have an allele of multiple codons. There is an increase in the size of repeat codon up to such a degree so that the DNA can be methylated. It causes decrease in the size of x chromosome which looks weak in the microscope. The mutation in gene leads to decrease in the size of mental retardation protein known as FMRP. It controls the population of m RNA and it plays a crucial role in the memory as well as learning. It helps in the development of axons and synapses are formed.
There are many medicines which are used to treat this condition but none of it has been effective. In the coming times the treatment may be effective with new advancements. In today’s time there is behavioral therapy as well as the special education which can be effective in treating this condition. The physical abnormalities can also be treated. One can go for the genetic counseling so that one can know about the outcome of children.
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Source URL: https://alldiseases.org/fragile-x-syndrome/
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