Definition

What is Batten disease?

Batten diseases is rare but fatal genetic disorder. It was first reported in 1983 by Dr. Frederick Batten.

Batten disease is a rare autosomal recessive inherited disorder. It is mainly characterized by problems with the nervous system. It belongs to a group of disorders called Neuronal Ceroid Lipofuscinoses (NCL).

Batten disease begins in childhood and is found in adults too. It is one of the most common forms of NCL and one of the 50 forms of lysosomal storage disease (LSD). Due to genetic mutations, the cells’ (of brain and central nervous system) lysosome lose their ability to remove the waste or excess material of the cells. As a result, the waste material accumulates in the cell and causes problems.

There are various forms of Batten diseases. These are classified by the age of onset and the type of genetic mutations involved like Infantile Neuronal Ceroid Lipofuscinoses, late infantile and juvenile (or adult) Neuronal Ceroid Lipofuscinoses. Among these, Juvenile Neuronal Ceroid Lipofuscinoses is the most common form of Batten disease. Nearly 10-20 genes have been implicated in causing Batten diseases.

  • Congenital Batten Disease: This type of Batten disease affects babies and can cause them to be born with seizures and abnormally small heads (microcephaly). It’s very rare, and often results in death soon after a baby is born.
  • Infantile Batten Disease: It begins within 6 months to 2 years of age and has a very rapid progress.  It also can cause microcephaly, as well as sharp contractions (jerks) in the muscles. Most children with INCL die before they turn 5 years old or else they remain in vegetative state. There is genetic mutation with CLN1 gene which encodes for protein PPT1.
  • Late Infantile Batten Disease: Late infantile Batten Disease is seen from the age of 2 to 4 years and progresses rapidly with symptoms like seizures that don’t get better with medication. It includes the loss of muscle coordination. These children have life span till 8 to 12 years of age. There is genetic mutation in gene CLN2 which encodes for the protein TPP1 which functions as a lysosomal enzyme.
  • Adult Batten Disease: It is also called Kufs disease and has a late onset of 40 years. Adults show mild symptoms with slow progress of disease. They too have short life span but the age of death can vary from person to person. This form of the disease does not result in blindness.

There are variants of late infantile Neuronal Ceroid Lipofuscinoses.

How common is Batten disease?

Batten disease is a rare disease. The frequency of occurrence of the disease is 2-4 in 100,000 live births. It is commonly seen in countries such as Sweden, Finland, Europe and Canada. Both males and females suffer from Batten disease. Females with juvenile Batten disease have short life span than males. When it occurs in a family, generally it affects more than one individual in that family.

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Batten disease?

The common symptoms of Batten disease are:

The child with Batten disease starts with a normal development but by the age of 5-10 years shows the symptoms of epileptic seizures and blindness. Other symptoms of Batten Disease involve personality and behavioral changes such as:

  • Jerks of limbs
  • Clumsiness
  • Slow learning with slow growth of head
  • Less blood circulation in lower extremities
  • Insomnia (difficulty in sleeping)
  • Loss of mobility
  • Problem with speech
  • Hallucinations
  • Dementia

These are extremely strange symptoms and difficult to be managed by the caretakers. Over the time the children with Batten disease lose their mobility, sight, speech and get frequent seizures due to which they become bedridden. Finally, death is inevitable in such patients.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Batten disease?

Batten disease is a genetic disorder caused due to defects in genes involved in lysosomal storage functions. The exact reason of what causes the genetic defect is not known.

Batten disease is an inherited autosomal recessive disorder. It means that both chromosomes carry mutations in the disease gene, and both parents are unaffected carriers. The child gets the disease when one copy of the defective gene is passed from each parent. The child possesses two copies of the defective gene and shows clinical manifestations of Batten Disease. The individual who carries one copy of the defective gene is known as the carrier and passes this gene to the offspring’s but does not get affected themselves.

Risk factors

What increases my risk for Batten disease?

Out of every 100,000 babies born in the United States, it’s estimated that about two to four have this disease that’s passed down through families. Since Batten disease is genetic, it can affect more than one person in the same family. Both parents have to be carriers of the gene in order to pass it down. Each one of their children has a one in four chance of getting it.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Batten disease diagnosed?

Batten disease is often misdiagnosed, because it’s rare and many conditions share some of the same symptoms. Since vision loss is usually one of the earliest signs of the disease, eye doctors can be the first ones to suspect a problem. Multiple exams and tests might be needed before your doctor makes a diagnosis. Doctors often refer children to neurologists if they think they need more tests.

There are different kinds of tests a neurologist can use to diagnose Batten disease:

  • Tissue samples or eye exam: By examining tissue samples under a microscope, doctors can look for the buildup of certain kinds of deposits. Sometimes doctors can see these deposits just by looking into a child’s eyes. As the deposits build up over time, they can cause pink and orange circles to develop. This is called a “bull’s eye.”
  • Blood or urine tests: Doctors can look for certain kinds of abnormalities in blood and urine samples that can indicate Batten disease.
  • Electroencephalogram (EEG): This is a test that involves putting patches on the scalp to record the brain’s electrical currents and look for seizures.
  • Imaging tests: CT (computed tomography) scans or MRIs (magnetic resonance imaging) can help a doctor see if there are certain changes in the brain that indicate Batten disease.
  • DNA test : If you know members of your family have Batten disease, you can get a DNA test to confirm a diagnosis.

How is Batten disease treated?

There’s currently no known treatment for any form of Batten disease. Symptoms like seizures can be improved with certain medications. Other symptoms and issues can be treated too. Some people with Batten disease get physical or occupational therapy to help them function. Scientists continue to research possible treatments and therapies.

 

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Batten disease?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 25, 2018 | Last Modified: January 25, 2018

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