Overview:
Batten disease is a group of nervous system disorders called neuronal ceroid lipofuscinosis (NCLs), a rare group of disorder that get worse over time. This is a fatal disorder usually affects children between ages of 5 and 10, the disorder affects the body’s ability to get rid of cellular waste, hence there build up cause many health problems including problems with nervous system and eventually death. There is no cure for batten disease. The damage is caused by build up of lipopigments, a fatty substance, in the cells of CNS, brain, and in the retina of the eye. Children with this disease develop normally and appear healthy overall before they begin to show symptoms. Children with the late-infantile or infantile forms normally show symptoms before the age of one.
Batten disease is named after the British pediatrician, Dr. Frederick Batten, who first described it in 1903. Dr. Frederick discovered cerebral degeneration and macular changes as a characteristics of the condition.
Types of Batten Disease:
1.Congenital NCL
In which babies are born with microcephaly(very small heads) as a result of abnormal development of brain. They often have difficulty in breathing, seizures and die soon after birth.
2.Infantile NCL (santavuori-Haltia disease)
In which seizures and the loss of motor ability are seen. Some newborns also develop microcephaly. Symptoms appear between ages of 6 months to 2 years, many die before age of 5.
3.Late infantile NCL (Jansky-Bielschowsky disease)
In which children have seizures and ataxia(loss of muscle coordination), this form of disease also results in the loss of motor and cognitive ability. Late infantile NCL appears between ages 2 and 4. Most have shorter survival rate but some children live into adulthood.
4.Juvenile NCL (spielmeyer-vogt-sjogren-batten disease)
It is the most common type of NCL. In which children lose the ability to communicate or move, seizures, and loss of vision also occurs. Some develops dementia. Symptoms usually begin between ages of 5 to 10, this form of disorder is fatal in early 20s or late teens.
5.Adult NCL (kuf’s disease or parry’s disease)
In which symptoms are milder than the other types and occurs before the age of 40, while less severe, this form of disease also reduces life expectancy.
Adult NCL is further divided into two types –
• Adult NCL type ‘A’ – symptoms include seizures associated with muscle contractions, myoclonic epilepsy, and dysarthria or ataxia.
• Adult NCL type ‘B’ – symptoms are same as type A but rarely includes seizures. Through the progression of disease some individuals may develop dementia.
Symptoms:
Following are the common symptoms of batten disease –
• Issues with coordination and movement.
• Problems while speaking.
• Epilepsy
• Vision loss (except for adults with batten disease).
• Changes in behavior and personality.
• Motor skills problems that get worse over time.
• Ataxia
• Myoclonus
• Dementia
• Cognitive decline.
• Psychiatric problems (i.e. aggression).
• Extra-pyramidal symptoms (restlessness, spasms, rigidity,jerky movements,etc.)
• Loss of muscle control.
• Atrophy of brain tissues.
What causes NCL disease ?
NCL are a family of autosomal recessive disorder caused by a gene CLN7, located on chromosome 4, which produces the protein MFSD8, a member of major facilitator superfamily, this involved with substance transport across the cell membrane. Mutation in the gene CLN7 is responsible for developing batten disease. Another cause is inheritance, meaning a child inherit two defective copies of gene from both of parents, one from each. In rare cases, the disease can also be passed through an autosomal dominant manner. This means only mutated copy of gene still develops this disease. Yet, there are no ways to prevent batten disease, death is the outcome in majority of cases. The cells eventually get overwhelmed by the build up of material and die, cells in the nervous system seem to be vulnerable. To cure Batten disease (we can only treat some symptoms of it) diagnosis is an important part.
How are these conditions diagnosed?
Following are some diagnostic method used by medical professionals –
• Genetic testing – this method confirm the presence of mutated gene that is responsible for causing NCL disease, it can be used in prenatal diagnosis too.
• Measurement of enzyme activity – this method is used to confirm CLN1 and CLN2 diseases.
• Tissues or skin sampling – this method can show the distinctive shapes formed by the lipopigment accumulation when viewed under a microscope.
• Blood or urine tests – this method indicate the abnormalities like presence of abnormal white blood cells that contain holes or elevated level of chemicals such as dolichol which is common to certain mutation disease.
• Electroencephalograms (EEG) – this technique monitors brain’s activity using electrodes that are placed on the scalp. ‘Telltale’ patterns in the brain’s electrical activity suggest seizures in an individual.
• Computed tomography (CT) and Magnetic resonance imaging (MRI) – This techniques help doctors look for changes in the brain’s appearance.
• Electrical studies of the eyes – this technique includes electroretinograms, which is used to detect abnormalities with the retina and visual-evoked response which measure electrical activity in the brain generated by sight. These techniques identify various eye problems associated with NCLs.
Is there any cure for batten disease?
Currently, no specific known cure for any form of batten disease are available, but FDA (food and drug administration) approved an enzyme replacement therapy “cerliponsa alfa“, that has been shown to halt the progression of symptoms. Some medicines are available to treat the symptoms like parkinsonism, aggression, anxiety, etc. Seizures can controlled with anti-seizure drugs.
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