Newborns mightily after birth are very vulnerable to various health condition . Some are genetic , some environment induced while some others are due to have touch on complications . Norrie Disease is one such type of disease that causes entire sightlessness in the male person during their nascency due to hereditary reasons . It is supposed to be a rare disease and it is found that those sustain from Norrie Disease experience hearing problems , and also their development is retarded or is very slow . They also have some form of behavioural abnormalities . Norrie Disease has been found to consort in the families because it is carried to the next generation by the newsboy with the assistance of X- chromosome factor .
It is observed that healthy mother are the carriers of the mutated gene that produces this disease . She passes on these cistron to the sons who get affected with Norrie disease . There are chances that some of the sons may not get these factor and will spring up absolutely goodly . It is also detect that there are chances that 50 pct of the mother have the risk of exposure of being the carriers and pass on the X – chromosomes which are mutate .
The fact is that sometimes the daughter may experience the mutate chromosome from the mother and she can be the carrier . This again has 50 percent chance of passing the genes to their Word . That is one of the reasons why it is said that Norrie ’s disease is a rarefied type of disease .
Symptoms of Norrie Disease
The most crucial feature of Norrie Disease is blindness flop after birth . The other symptoms of Norrie Disease vary from individual to individual and only the doctors will be in a position to diagnose the disease .
Norrie ’s disease is a silent killer disease . The symptoms in the other level can help to take care of the fry .
Some of the Symptoms of Norrie Disease are
Prognosis of Norrie’s Disease
The preponderance and occurrence rate of Norrie Disease are not known yet as it is very rarified . However , it has been report to occur in all groups of people and only the manlike youngster is affected by Norrie Disease whereas the distaff child becomes the carrier .
Causes of Norrie Disease
Very often the researchers have found that Norrie Disease is generally inherit as X – linked genetic upset that is due to the unnatural gene on the X – chromosomes is turn off which means the chromosomes present on those factor are not activate . It usually happen in the males only . These chromosomes if present in the females then , they become the aircraft carrier of the disease but they are not affected with the disease .
researcher have find that Norrie disease occurs because of the genetic mutation of the genes located on the X - chromosome present in the nucleus of the human cellphone , which carry the genetical information for every single soul .
Mutations in the NDP factor on the chromosome reason Norrie disease which is inherited in an cristal - tie recessive pattern . This is the grounds why mostly the boy are affected with Norrie Disease .
Pathophysiology of Norrie Disease
harmonise to the researcher it is found that the cristal - linked recessive upset do ocular atrophy , mental slowing , deafness and dysmorphic features in the new born . In some boy it is find that there is absence seizure of monoamine oxidase which are roll in the hay to be eccentric - A and eccentric - B complex activity in some manful child with chromosome deletions . The findings have suggested that abnormal activity or the instability between 5-hydroxytryptamine and other neurotransmitter layer can be the reason of pathogenesis of human cataplexy .
Diagnosis of Norrie Disease
Norrie disease is surmise based on the detailed study of the patient history , through the clinical valuation and identifying the characteristics of findings . There are luck of kinsperson history that supports the X – connect heritage . It can be confirmed with the help of molecular genetic examination where the doctor can fare to fuck about the mutation in the defective gene nowadays . Such selective information can be available by doing the testing at the various clinical testing research laboratory .
found on certain symptom it is diagnosed whether the baby is having Norrie Disease . The symptoms are as follows :
All the above symptoms are sufficient to reassert the diagnosing of the Norrie Disease .
What are the Complications Associated with Norrie Disease?
The main complications colligate with Norrie ’s disease are :
All of them are the lower-ranking conditions of complications in this disease and sometimes these complications are not clear or arbitrary .
What is the Treatment for Norrie Disease?
It is found that there is no specific treatment that could treat Norrie ’s disease as it is a familial disorder . There is also no way to discontinue or block off or rescind the loss of sight and also take heed . The only aesculapian handling that can be given are for the other problems associated with Norrie Disease like respiration or breathing difficulties and in some case digestion trouble .
A child contain with Norrie ’s disease would necessitate particular attention such as special teaching because of sight and hearing impairments . Moreover , specialised care is also demand as many child will have mental subnormality .
