Batten's disease, a rare condition that causes children to develop early dementia & bull; hello healthy

There are hundreds of diseases that fall into the category of rare diseases. In general, a new disease is considered rare if the number of cases found is less than 1 in 2,000 people in a population. Batten's disease is a disease that is classified as very rare. This condition is reported to occur in approximately 2 to 4 out of every 100,000 people in the United States.

Until now, there has been no detailed report regarding the number of Batten disease cases in Indonesia. However, here's everything you need to know about Batten disease.

What is Batten's disease?

Batten's disease is a fatal congenital disorder of the nervous system that attacks the body's motor systems. Symptoms usually begin in childhood. This condition is also known as Spielmeyer-Vogt-Sjogren-Batten disease or Juvenile CLN3.

Batten's disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses, or NCL. NCL is characterized by an abnormal build-up of certain fatty and granular substances in the nerve cells of the brain and other body tissues due to genetic mutations. Simply put, certain genetic mutations in a child's body can interfere with the body's cells' ability to get rid of toxic waste. This can cause shrinkage of certain areas of the brain and give rise to a range of neurological and physical symptoms.

Batten's disease is one of the causes of premature death in children and adults alike. This disease is most commonly found in people of Northern European or Scandinavian descent.

What causes Batten's disease?

Batten's disease is an autosomal recessive disease. This means that the gene mutation that causes this disease can be passed from parent to child. A child born to parents who both carry a disease-causing gene mutation has a 25% chance of developing the disease.

The disease was originally recognized in 1903 by Dr. Frederik Batten, and it wasn't until 1995 that the first genes that cause NCL were identified. Since then more than 400 mutations in 13 different genes have been found to cause various forms of NCL disease.

Our cells contain thousands of genes lined up along chromosomes. Human cells contain 23 pairs of chromosomes, for a total of 46 pairs. Most genes control the production of at least one protein. These proteins have different functions and include enzymes that act to speed up molecular chemical reactions. NCL is caused by an abnormal gene mutation. As a result, the cells do not work properly to produce the required protein, leading to the development of symptoms associated with this disease.

What are the symptoms of Batten's disease?

Symptoms of Batten's disease are characterized by progressive neuronal decline which usually becomes evident between the ages of 5 and 15 years. Symptoms generally begin with vision loss that occurs rapidly. Children and adolescents who develop this disease often experience complete blindness by the age of 10.

Children who have this disease also experience problems with speech and communication, cognitive decline, behavior changes, and motor impairment. They often have difficulty walking and easily fall or stand unsteadily because of difficulty balancing. Frequent behavior and personality changes include mood disorders, anxiety, psychotic symptoms (such as laughing out loud and / or crying out loud for no reason), and hallucinations. Speech disorders such as stuttering can also occur as a sign of this disease.

In some children, the initial symptoms may be characterized by episodic (recurrent) seizures and loss of previously acquired physical and mental abilities. This means, the child experiences developmental setbacks. With age, the child's seizures get worse, signs of dementia become clear, and motor problems similar to those of Parkinson's disease develop in the elderly. Other symptoms commonly present in the late teens to early 20s adulthood include muscle twitching and muscle spasms that cause weakness or paralysis in the hands and feet, and insomnia.

In most cases, the mental and nervous deterioration of this disease leaves a person lying helpless in bed and unable to communicate easily. Ultimately this condition can lead to life-threatening complications in your twenties to thirties. Because the genetic mutations that cause this condition vary widely, the symptoms of Batten's disease can also vary widely from person to person.

Is there a cure for Batten's disease?

There is currently no cure available to cure Batten's disease. However, this condition can be managed with special therapy to help maintain the quality of life for children and their families.

The FDA, the Food and Drug Administration of the United States, approved alpha cerliponase as a treatment to slow the loss of ability to walk in children aged 3 years and over. Seizures can sometimes be relieved or controlled with anti-seizure drugs, and the symptoms of other medical problems can be managed according to their condition when they arise. Physical therapy can also help patients maintain bodily functions for as long as possible.

Some reports have found that the progression of this disease can be slowed by consuming vitamins C and E and a diet low in vitamin A. However, treatment does not prevent the fatal outcome of this disease. Researchers from all over the world are still looking for an effective treatment for Batten's disease.

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