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Batten Disease - Symptomatic Complications, Diagnosis, and Treatment Strategies

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Batten disease or neuronal ceroid lipofuscinoses is a rare but fatal neurodegenerative condition causing cognitive and functional impairment in affected people.

Written by

Dr. Jayasree S

Medically reviewed by

Dr. Abhishek Juneja

Published At August 26, 2022
Reviewed AtAugust 29, 2023

What is Batten Disease?

It is an extremely rare genetically inherited disease condition, causing degeneration of nerves and fatal consequences in the affected. The technical term for Batten disease is neuronal ceroid lipofuscinoses (NCL). The cells in the body lose their ability to metabolize and dispose of certain proteins and fats. The waste products keep accumulating in the brain cells and other body parts. This will cause a gradual neurologic impairment and reversal of development in children and young adults. As the disease progresses, the affected individual will require full-time assistance with activities of daily living and all other needs. Symptoms of Batten disease are irreversible, and the affected people have a relatively low life expectancy. Sooner or later, the individual succumbs to death in their late teens or late twenties.

What Are the Causes of Batten Disease?

Batten disease is caused by a set of abnormal genes that cannot produce some specific proteins in the body. These are the proteins required for speeding up some chemical reactions (enzymes) that include disposing of cellular wastes. Without these proteins, the cells in the body will not function normally, and they will keep accumulating unmetabolized substances in them. This is going to develop a wide range of associated complications. The functional impairment gradually leads to the death of the individual. But, the number of years they survive depends on the start of symptoms and the type of the gene they have inherited.

What Are the Signs and Symptoms of Batten Disease?

Symptoms may start appearing from the age of six months or rarely before 40 years. They appear as and when the cells seize to function and die because of the accumulation of lipoprotein wastes in them. Depending upon the type of genetic malfunction present in the individual, symptoms vary. However, there are a number of common symptoms exhibited by most affected individuals. Those include:

  • Problems with eyesight develop in children gradually, worsen over time, and end up in total blindness, whereas those with adult-onset Batten disease rarely suffer vision loss.

  • Severe seizure attacks are hard to control (complex epilepsy).

  • Developmental regression in children who were doing fine till the onset of symptoms.

  • Uncontrollable quick, jerky movements of the hands and legs (myoclonic spasms).

  • Issues with sleep.

  • Slowly declining speech, hearing, and language skills.

  • Behavioral changes.

  • An impaired cognitive function that affects memory, thinking capacity, and reasoning abilities as in dementia.

  • Hallucinations and delusions.

  • A gradual decrease in body movements and activities (fine and gross motor skills) ends up in the inability to move around.

  • Some children develop heart disease (cardiac arrhythmia) that may require pacemakers.

How Does One Inherit Batten Disease?

This disease is genetically inherited from one’s parents, though the chances are scarce. Even if both the parents have abnormal genes causing Batten disease in them, the possibilities for the child to inherit the genes are only fifty percent (autosomal recessive). Therefore, they probably stay unaffected by the disease but can be potential carriers of the malfunctioning gene. There are around eight types of malfunctioning genes causing Batten disease. A congenital NCL is when the baby is born with the condition and dies soon after birth. In infantile NCL, symptoms start around six months to two years with a rapidly progressing degeneration of nerves. The late infantile NCL begins at around two years to four years. Adult NCL, also known as Kufs disease or Parry’s disease, begins sometime before forty.

What Is Juvenile Batten Disease?

Typically the symptoms of juvenile Batten disease begin in childhood, around the ages of five to ten years. A child who was previously doing well might start showing problems with eyesight and develop seizures. In the early days, they show subtle changes in personality and overall behavior. The child tends to turn clumsy and often stumbles while walking. Even a child who used to keep up with the developmental milestones and excel at school previously shows a reversal in their abilities (developmental regression), and their learning process slows down. As the conditions worsen, the child ends up with mental impairment, functional disabilities, severe seizures, and vision loss.

How Is Batten Disease Diagnosed?

As this is a very rare one, Batten disease frequently gets misdiagnosed as some other neurological condition. Most individuals undergo multiple rounds of diagnostic procedures before they come to the conclusion that it is Batten disease. A doctor may suspect Batten disease during the eye examination of a child as issues with eyesight are one of the earlier symptoms. A genetic test with deoxyribonucleic acid (DNA) analysis to pin down the abnormal gene is the way of confirmation for Batten disease. Other tests include:

  1. Blood and urine tests to check for specific features of Batten disease.

  2. Tissue sampling and skin sampling to look for pigments that get deposited in the cells.

  3. Electroencephalogram (EEG) studies to check the electrical activity of the brain, which is suggestive of seizures.

  4. Imaging studies of the brain such as computed tomography (CT) and magnetic resonance imaging (MRI) may show damaged areas inside the brain due to the death of nerve cells.

  5. Measuring enzyme activity specific to each type of NLC condition.

What Are the Available Treatments for Batten Disease?

Currently, there are no definite treatments available for curing Batten disease. The symptoms and the associated functional damage cannot be reversed. All the efforts are made to assist the affected individual in maintaining a better quality of life through their period of decline. The following strategies are useful:

  • Prescribing anticonvulsant drugs to control and reduce seizure episodes.

  • Physical and occupational therapy to regain the range of functionality to the possible extent.

  • As the disease progresses, causing more and more disabilities, the individual will require mechanical assistance and support devices to move around and fulfill their needs, such as wheelchairs and ramps.

  • People with a history of Batten disease in their family are advised to get genetic counseling regarding the chances of passing on the disease to the next generations so that they can plan the future accordingly.

Conclusion:

Batten disease is an extremely rare condition, and statistics say it happens as infrequently as two to four individuals among a population of one lakh. For an individual affected with Batten disease, the family and close relatives of the affected also require educational support and assistance in dealing with the situation. Doctors always advise the affected individual and their families to join support groups to share their experiences over coping with the symptoms. There are several types of research being conducted on means to treat Batten disease among the scientific society, which gives hope to the affected and their families.

Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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