Contents:
- Medical Video: Lasting Moments: The heartbreaking reality of childhood dementia
- What is Batten's disease?
- What causes Batten's disease?
- What are the symptoms of Batten's disease?
- Is there a cure for Batten's disease?
Medical Video: Lasting Moments: The heartbreaking reality of childhood dementia
There are hundreds of diseases included in the category of rare diseases. In general, a new disease can be considered rare if the number of cases found is less than 1 per 2,000 people in a population. Batten's disease is one of the very rare diseases. This condition is reported toccurring in approximately 2 to 4 of every 100,000 people in the United States.
Until now there has been no detailed report on the number of cases of Batten disease in Indonesia. However, here are all you need to know about Batten's disease.
What is Batten's disease?
Batten is a fatal congenital disorder of the nervous system that attacks the body's motor system. Symptoms usually start in childhood. This condition is also known as Spielmeyer-Vogt-Sjogren-Batten disease or Juvenile CLN3.
Batten is the most common form of a group of disorders called neuronal ceroid lipofuscinoses, or NCL. NCL is characterized by abnormal accumulation 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 disrupt the ability of his body's cells to dispose of toxic waste. This can cause shrinkage of certain areas of the brain and cause a series of symptoms of nerve disorders and other physical symptoms.
Batten is one of the causes of premature death in children and adults. This disease is most commonly found in people of Northern European or Scandinavian descent.
What causes Batten's disease?
Batten is an autosomal recessive disease. That is, the mutation of the gene that causes this disease can be reduced from parent to child. A child born to a parent who both carries mutations of disease-causing genes has a 25% chance of developing this disease.
This disease was initially recognized in 1903 by Dr. Frederik Batten, and only in 1995 did the first genes that caused NCL be 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 the chromosomes. Human cells contain 23 chromosome pairs, with a total of 46 pairs. Most genes control the making of at least one protein. This protein has different functions and includes enzymes that act to accelerate molecular chemical reactions. NCL is caused by abnormal gene mutations. As a result, the cells do not work properly to produce the protein needed so that it leads 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 nerve loss which will usually be apparent between the ages of 5 and 15 years. Symptoms generally begin with loss of vision that occurs quickly. Children and adolescents who get this disease often experience total blindness at the age of 10 years.
Children who have this disease also experience problems with speech and ways of communicating, cognitive decline, behavior changes, and motor decline. They often struggle to walk and fall easily or stand unsteady because of difficulty balancing the body. Frequent behavioral and personality changes include mood disorders, anxiety, psychotic symptoms (such as laughing and / or crying without reason), and hallucinations. Speech disorders such as stuttering can also occur as a sign of this disease.
In some children, the initial symptoms can be characterized by episodic seizures (relapse) and loss of physical and mental abilities previously obtained. This means that children experience developmental setbacks. As we age, the child's seizures get worse, signs of dementia become clear, and motor disorders appear similar to those of Parkinson's disease in the elderly. Other common symptoms that appear in late adolescence to early adulthood include muscle twitching and muscle spasms that cause weakness or paralysis of the hands and feet, and insomnia.
In most cases, the deterioration of nerve and mental work caused by this disease causes a person to lie helpless in bed and cannot communicate easily. In the end this condition can result in life-threatening complications in the ages of twenty to thirties. Because the genetic mutations that cause this condition vary greatly, the symptoms of Batten's disease can also vary greatly for each person.
Is there a cure for Batten's disease?
There are currently no drugs 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 US Food and Drug Administration, approved alpha cerliponase as a treatment to slow the loss of walking ability in children aged 3 years and over. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and symptoms of other medical problems can be treated according to their condition when they arise. Physical therapy can also help patients maintain body function for as long as possible.
Some reports have found that the development 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 effective treatments for Batten's disease.
