Batten disease is late juvenile inherited disorder of the nervous system. It is part of a group of disorder called Neuronal Ceriod Lipofuscinoses – NCL. Generally the symptoms develop between the age of 5 and 10 year. The disease was first described by a British pediatrician in 1903. This genetic disease does not have any racial predilection.
The early symptoms of Batten disease are in their subtle form. They may present with behavior changes such as clumsiness, slow learning, speech delay and delay in other milestone. Parents and pediatrician may first notice problem in vision and seizures in the child.As time passes, seizures worsen, the child progressively becomes blind. There is accompanying loss in motor skills.
This inherited genetic disorder is caused due to build up lipopigments in the eyes, brain and different parts of the body. Lipopigments are substances made up of fats and proteins. Excessive accumulation of lipopigment in brain causes degeneration of brain cells. Build up lipopigment in eyes results in blindness. Batten disease is a fatal disease, children as young as 8 years die from this disease.
Causes Of Batten Disease
Batten disease is caused by lack of an enzyme or a defect in the gene.Some scientists believe there is deficiency of an enzyme which is responsible for metabolism of lipopigments. The cells may not be able to produce enough enzyme or they may produce defective enzyme. As a result the cells will not be able to process excess lipopigments correctly inside them. This results in degradation of the cell. Scientists have not pinpointed the enzyme which is at fault.
The disease develops when there are two copies of defective gene, one from each parent. A child inheriting one defective gene may not develop the disease or may develop in its milder variety. He can become a carrier and pass the defective gene to his sons and daughters.
Batten Disease Symptoms
Since the disease is of rare entity, it may sometime become difficult for the medical professional to diagnose the disease. Many doctors may not have come across the disease in their whole carrier. Below are some of the symptoms of Batten disease.
- The disease usually begins between 5 to 10 years. During this period, parents may observe a change in their child; a previously normal child has begun to develop vision difficulties as well as convulsions.
- In some children, the early symptoms may be subtle. Mental changes may predominate at the onset. The child may be labeled as a behavioral problem or psychotic for some time.
- The child walks awkwardly, often stumbles; there is an abnormal body movement.
- He becomes clumsy, delay in development of all milestones.
- There is explosive laughing or crying.
- Eventually, extreme dementia, wasting of muscles, contractures sets in and the child dies.
- The patient dies in his late teens or in early twenties. In some cases the course is slow and patient may survive into third decade.
Treatment Options For Batten Disease
There is no specific treatment available for batten disease. Reversal of symptoms is not possible once they develop. However, seizures can be controlled with anticonvulsant drugs.
- Treatment is purely symptomatic. This means symptoms are treated as they develop.
- Physical and occupational therapy is the mainstay. It makes patient’s life easier. Physical therapy helps to relax the muscle contraction.
- In some cases, vitamin supplements help to slow down the progress of Batten disease.
- After a period of time, patient is bed ridden, loses his vision and movement. His mental capabilities also deteriorate. Usually the patient does not survive more than 20 years.