What is Cockayne Syndrome?
Cockayne Syndrome is an highly rarefied disease found in babies where there is deterioration of the nervous system along with various other symptom like microcephaly meaning minuscule than normal heads and the babies look more aged than normal . baby with Cockayne Syndrome are extremely sensitive to sunlight and tend to evolve sunburns even to petty exposure to sunlight . Cockayne Syndrome can affect almost any lively organ of the body .
Cockayne Syndrome get along under the family of leukodystrophy and is triggered by genetic mutation in factor CSA or the CSB cistron . These genes are responsible for for fixing of DNA which may get damage due to toxin , excessive sunlight exposure , and chemicals . This DNA damage needs to be repaired emergently and the proteins that the genes CSA and CSB produce does exactly that but in cases of Cockayne Syndrome there is sport in these factor lead in the damaged DNA not be able to be renovate resulting in electric cell decease .
There are three type of Cockayne Syndrome , Type I , Type II , and Type III .
What Causes Cockayne Syndrome?
As say above , the primary cause of Cockayne Syndrome is sport in cistron CSA or CSB which are responsible for for desoxyribonucleic acid repair which can be damaged due to a sort of divisor include sunlight exposure , various toxins , picture to various chemicals among others . Due to chromosomal mutation in these factor the desoxyribonucleic acid is not able to be revivify resulting in severe cellular phone hurt and in the end death of the cells result in various symptoms include extreme radiosensitivity and a premature aged appearance .
Cockayne Syndrome is an autosomal recessive trait which intend that one copy of the bad gene should be inherited from each parent for the child to get Cockayne Syndrome .
What are the Symptoms of Cockayne Syndrome?
The authoritative symptom of Cockayne Syndrome is the bearing of microcephalus which will be ostensible at birth itself . This will be accompany by the unfitness of the tike to grow normally and unable to meet the developmental milestones . The nipper will also have a very unretentive stature . The symptom will be apparent right from the birth of the child and will run to aggravate with clip . Photosensitivity is also one of the mutual symptom of Cockayne Syndrome . youngster with this upset will not be able to endure even minimal sun and may getblisters . Some of the other symptom of Cockayne Syndrome are learn loss , vision impairment , tooth decay , bone abnormalities , constant coolness of the upper and lower extremity .
How is Cockayne Syndrome Diagnosed?
Cockayne Syndrome is quite manifest right from the birth of the tyke with an abnormally small principal circumference and other feature which may point to the condition . to confirm the diagnosis of Cockayne Syndrome , the doctor may perform a transmitted testing looking for mutant of the CSA or CSB factor which will potentially confirm the diagnosis of Cockayne Syndrome .
How is Cockayne Syndrome Treated?
There is no permanent remedy for Cockayne Syndrome and symptoms are purpose at minimizing complications and making the sprightliness of the child as well-heeled as potential .
to find any decline in quality of the consideration of the child due to Cockayne Syndrome , it is essential for the tiddler to be taken to the hospital for veritable checkup and screening at least once every six calendar month if not less , as Cockayne Syndrome is a progressive disorderliness and complication may move up any time .
What is the Prognosis of Cockayne Syndrome?
The forecast for children with Cockayne Syndrome is highly poor and in majority of cases , by the long time of 10 years tike buckle under to Cockayne Syndrome .
