What is Krabbe Disease?
Krabbe Disease is an super serious and often fatal inherited pathological status of the brain in which the entire myelin cocktail dress , a structure which lies above the nerve cells and protects it is destroyed throughout the nervous system of rules . The symptoms of Krabbe Disease may start to become evident by the time a embayment is six months of eld which chop-chop progresses and the baby succumbs to this disease by the eld of 2 at maximum . In some cases , this condition is consider to develop in old nestling and adults but the symptom then produced vary greatly .
Krabbe Disease does not have a cure and handling for this circumstance is wholly symptomatic and supportive making the child or the affected role as well-heeled as potential , although with the furtherance in medical science theme cell transplant has shown some promise in treat infants with Krabbe Disease but this needs to be done if the diagnosis gets confirm before the oncoming of symptoms . In the United States , one in a hundred thousand births is born with Krabbe Disease .
What Causes Krabbe Disease?
Krabbe Disease is an inherit condition and is triggered by variation in gene GALC which leave in pure destruction of the medulla sheath throughout the nervous system . Once the myelin sheath is destroyed the nerve cell are not able to go properly contribute to sort of complication . Krabbe Disease is an autosomal recessive disease think that a written matter of the defective cistron needs to be inherited from each parent for the baby to get this disease .
What are the Symptoms of Krabbe Disease?
As stated above , the symptoms of Krabbe Disease start to become apparent by the time the nipper is six calendar month of age . The symptoms appear gradually at onset but then they chop-chop progress . Some of the symptoms of Krabbe Disease are :
As the disease condition advance symptom include
When Krabbe Disease grow in an older child or an adult , the symptoms are alone dissimilar and include :
Thus it can be order that if Krabbe Disease is diagnosed in an baby then there are minimum chances of the tike surviving which is not the case if this disease occurs in an adult .
How is Krabbe Disease Diagnosed?
For a diagnosis of Krabbe Disease , the Dr. will begin with taking a history of the child and observe for signs and symptom display by the tike . In case of Krabbe Disease is suspected , then laboratory studies will be done where a blood sample distribution will be taken and sent for analytic thinking to appear for the floor of GALC enzyme which in case of Krabbe Disease will be very low to remove . Once Krabbe Disease is suspected , it becomes crucial to seek to sustain the diagnosis and find out whether the disease progression is going to be rapid and fast or not .
For this , radiological study will be ordered in the cast of MRI or CT scan of the brain which will clearly show demyelination or loss of myelin sheath in the brain . This will show the extent and progression of the disease and substantiate the diagnosing of Krabbe Disease . A nerve conduction study may also be perform to check on the rate at which the brass are send signals through and from the brain and whether there is any freakishness in the functioning of the nervousness . In case of Krabbe Disease , the nerve conductions will be very dense . A genic test may be done to look for mutation in the GALC gene and if present will corroborate the diagnosis of Krabbe Disease .
How is Krabbe Disease Treated?
For infants who have already acquire symptoms of Krabbe Disease , as of yet there is no remedy and the treatments are strictly diagnostic and aimed at keeping the nipper as prosperous as possible . For diagnostic discourse , the babe will be given anticonvulsants for ictus control . Medications will be given for control of heftiness spasms . For slowing down the procedure of decreasing muscle tone , physical therapy will also be given to the tike . It will be made certain that the kid is given ample amount of nutritional support as and when the child loses the ability to swallow . In these causa , food and nutritional supplementation can be given through stomachal electron tube .
On the other deal , older child who modernize Krabbe Disease may be given physical and occupational therapy to assist with lessen muscleman whole step and make the child as independent as possible .
Stem Cell Transplantation . This is one of the newest forms of discourse for Krabbe Disease and has shown some hope especially in infants if done before the onset of symptoms . The root word cells contain microglia that are special cells which tend to domiciliate in the unquiet organisation . Once base cell transplantation from a level-headed donor is done , then these microglia take up accumulating in the nervous organization and produce goodish GALC enzyme which helps in formation of myeline sheaths . This may greatly slow down down the progression of Krabbe Disease . Children receiving stem cell transplantation have importantly slowed progression of Krabbe Disease but still experience great deal of difficulties especially with walk and lecture .
What is the Prognosis of Krabbe Disease?
The overall prognosis for Krabbe Disease is very grim as the disease go on very rapidly . On an modal an infant with a confirmed diagnosing of Krabbe Disease can exist a maximum of two years . In older nestling , the medical prognosis is a piece good but ultimately they also give in within 6 - 7 years of diagnosis of Krabbe Disease .
