Batten diseases is rarified but fateful genetic disorder . It was first reported in 1983 by Dr. Frederick Batten . Batten disease is a rare autosomal recessive transmitted disorder . It is principally characterized by problem with the uneasy system . It go to a mathematical group of disorders called Neuronal Ceroid Lipofuscinoses ( NCL ) . It begins in puerility and is found in adults too . Batten disease is one of the most unwashed mannikin of NCL . It is one of the 50 forms of lysosomal storage disease ( LSD ) . Due to genetical variation , the cell ’ ( of mastermind and primal unquiet system ) lysosome lose their power to remove the waste or excess stuff of the cells . As a result , the waste material accumulates in the prison cell and causes trouble .
Types of Batten Disease
There are various forms of Batten diseases . These are sort out by the age of onset and the character of genetic mutations involved like Infantile Neuronal Ceroid Lipofuscinoses , previous infantile and juvenile ( or full-grown ) Neuronal Ceroid Lipofuscinoses . Among these , Juvenile Neuronal Ceroid Lipofuscinoses is the most vulgar mannikin of Batten disease . near 10 - 20 genes have been entail in causing Batten diseases .
Congenital Batten Disease : This character of Batten disease is very rare and babies become flat soon after parturition .
There are variants of late childish Neuronal Ceroid Lipofuscinoses .
Symptoms of Batten Disease
The child with Batten disease starts with a normal development but by the age of 5 - 10 years establish the symptoms of epileptic seizures and sightlessness . Other symptom of Batten Disease require personality and behavioural change such as :
These are extremely strange symptom and hard to be managed by the caretakers . Over the time the children with Batten disease lose their mobility , sight , speech and get frequent seizures due to which they become bedfast . Finally , death is inevitable in such patients .
Epidemiology of Batten Disease
Batten disease is a rare disease . The frequency of occurrence of the disease is 2 - 4 in 100,000 springy birth . It is commonly view in land such as Sweden , Finland , Europe and Canada . Both males and females stand from Batten disease . female with juvenile Batten disease have short biography couple than male person . When it occurs in a family , generally it affects more than one somebody in that family .
Prognosis of Batten Disease
There is no therapeutic for Batten disease and end is evident . Thus , all forms of Batten disease have poor prognosis and show a brusque life brace .
Causes of Batten Disease
Batten disease is a genetic disorder caused due to flaw in genes involved in lysosomal entrepot functions . The exact reason of what causes the genetical blemish is not known .
Batten disease is an inherited autosomal recessionary disorder . It mean that both chromosome carry sport in the disease gene , and both parents are unaffected toter . The tike gets the disease when one written matter of the faulty cistron is passed from each parent . The tike possesses two copy of the faulty gene and show clinical reflection of Batten Disease . The individual who have a bun in the oven one transcript of the defective gene is known as the common carrier and pass this factor to the offspring ’s but does not get pretend themselves .
Pathophysiology of Batten Disease
Batten disease primarily affects the nervous system . The genetic blemish affects lysosome functions . There is overweening accumulation of substances called as lipopigments ( lipofuscin ) in the cells of the nous . These lipopigments are made of fats and protein and accumulate in unlike body tissue such as retina , tegument , brawn , and cardinal nervous system . This accumulation affects functions of neuron and result to their death . The changes are get a line in the form of progressive symptoms .
These lipopigments show greenish - yellow-bellied coloring material under UV lightness microscope . They form deposits inside the cells which are envision as half - synodic month shapes , fingerprint or sand grain shapes .
Complications of Batten Disease
Batten disease is a neurodegenerative disease which begin in the puerility . The patient demo a lot of symptom which are hard to divvy up with even by the caretakers . The presence of seizure and slip intocomaare the principal complication . The patient outlive only till twenty years of age .
Diagnosis of Batten Disease
The first sign of Batten disease is problem with the visual sense which has to be diagnosed by the physician as the rootage of this disorder . The doctor do physical examination and notes down the medical chronicle . The patient will be advised to do a turn of trial which are as follows :
Treatment of Batten Disease
Till date there is no treatment for Batten disease . Drugs are available to control capture and genial problems . forcible and occupational therapy may be helpful . However , there are no drug which can bring around Batten ’s disease . Only palliative care is give to relieve the symptom .
Batten disease is a calamitous genetic disorder which affect lysosome of the brain cells . It exhibits a number of symptoms which are difficult to manage . It is a complicated upset which ultimately leads to death of an individual . There is still no known cure and the condition is managed with anti - epileptic drug . Since it is a single gene disease hence emphasis is hold to the molecular based treatments such as the gene therapy , base mobile phone therapy and immunosuppression , etc . These are still in inquiry stage and clinical trials will be done before used in clinics .
