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Batten disease is a group of inherited genetic diseases called neuronal ceroid lipofuscinoses that affect the nervous system. These disorders usually begin in childhood and lead to seizures, cognitive decline, movement disorders, and behavioral changes.Batten disease is rare. It affects approximately 2 to 4 in every 100,000 children born in the United States. The disease is currently not curable and treatment usually focuses on relieving symptoms and improving quality of life.

Read on to learn more about the causes, symptoms, and treatments associated with Batten disease.

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Batten disease is a genetic neurological disorder that occurs when a mutation in a gene interferes with the function of lysosomes in the body, which break down and recycle waste products.

These mutations inhibit the body’s ability to produce the proteins necessary for the proper functioning of lysosomes. When lysosomes cannot break down waste, waste accumulates.

This buildup affects nerve cells in the brain and other body tissues.

How is Batten disease classified?

Doctors classify the different forms of Batten disease based on the genes that cause the specific disorder, called neuronal ceroid lipofuscinoses (CLN). A number is used after the acronym “CLN” to designate the disorder subtype.

What causes Batten disease?

Batten disease is a genetic disease. Children who receive the same mutated CLN gene from both parents will develop the disease.

If each parent carries a mutated gene, there is a 25% chance that the child will have Batten disease. If the child inherits only one mutated gene, he will become a carrier of the genetic mutation, which will allow him to pass it on to his children.

The rare exception is adult-onset CLN6 disease, also known as Kufs disease type A. People with this condition may have inherited only one mutated gene.

What are the symptoms of Batten disease?

Most symptoms of Batten disease are neurological. Symptoms can appear at different stages of life, depending on the subtype of disease a person has.

Some common symptoms of Batten disease include:

  • behavioral and personality changes
  • cognitive decline
  • loss of coordination
  • clumsiness and balance problems
  • slowed movements
  • tremors
  • muscle rigidity
  • a decline in speech skills to the point of becoming non-verbal
  • delayed milestones in infants
  • dementia, psychosis, or hallucinations that may come and go
  • echolalia or repetitive speech
  • heart problems
  • progressive blindness in children
  • microcephaly, or a small head and skull in a newborn
  • muscle spasms or tics
  • sleep disturbances
  • seizures
  • speech delays or stuttering
  • weakness that progresses to paralysis
  • premature death

How do doctors diagnose Batten disease?

Doctors can use several tests to diagnose Batten disease, including:

  • Genetic test: This is the primary testing method used to diagnose Batten disease. Doctors can determine if mutated genes are present before and after birth.
  • Eye exams: Doctors can use eye exams to test for several common eye problems in Batten disease. They can also detect the presence of waste products that lysosomes have not been able to recycle or break down.
  • Blood or urine tests: Doctors can use these tests to look for certain chemicals and atypical cells found in some forms of Batten disease.
  • Skin or tissue tests: The waste products that accumulate in Batten disease are sometimes visible in skin or tissue samples.
  • Imaging tests: MRIs and CT scans can help doctors scan the brain for changes that could signal Batten disease.
  • Electroencephalogram: Doctors can use this test to monitor the brain for signs of seizures or other electrical activity that may suggest Batten disease.

What are the treatments for Batten disease?

Treatments for Batten disease aim to relieve symptoms and create the best possible quality of life. Doctors may prescribe anticonvulsant medications to control seizures, and physical therapy may be needed to maintain muscle function.

The Food and Drug Administration (FDA) has approved a drug called cerliponase alfa that doctors can prescribe to slow the progression of symptoms in children with the late childhood subtype of CLN2.

Is Batten’s disease curable?

There is currently no cure for Batten disease. The outlook for people with the disease usually depends on which subtype they have and when symptoms began. Generally, the earlier the symptoms appear, the faster the progression of the disease.

Infants and children with Batten disease generally have a much shorter life expectancy than people who develop Batten disease as adults. Batten disease subtypes in adulthood may cause milder symptoms and life expectancy may not decrease.

Is there support for people with Batten disease and their families?

The Batten Disease Support and Research Association provides resources for people with Batten disease, their families and caregivers. You can learn more about the disease, connect with others facing similar experiences, and find individual and family counseling.

Batten disease is a rare genetic disease that mainly affects children. This can lead to neurological symptoms and premature death. The earlier the symptoms start, the faster they tend to progress.

There is currently no cure for Batten disease, but treatments are available to relieve symptoms. Support groups are also available to help family members and caregivers of people with Batten disease.

Talk to your doctor to learn more about Batten disease.