A Guide to Batten Disease

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

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

What is Batten disease?

A parent holds their child
Bo Bo/Stocksy United

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

These mutations inhibit the body’s ability to produce proteins needed for the lysosomes to function properly. When the lysosomes cannot break down waste, the waste material builds up.

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

How is Batten disease classified?

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

ClassificationWhen symptoms begin
CLN1, infantile onsetunder 1 year old
CLN1, juvenile onsetaround ages 5–6 years
CLN2, late infantile onsetaround 2 years old
CLN2, later onsetaround ages 6–7 years
CLN3, juvenile onset, the most common formages 4–7 years
CLN4, adult onset, a rare formaround age 30 years
CLN5, variant late infantile onsetage 2 years or older
CLN6, variant late infantile onsetage 2 years or older
CLN6, adult onsetearly adulthood
CLN7, variant late infantile onsetage 2 years or older
CLN8 with epilepsy with progressive mental retardationages 5–10 years
CLN8, late variant onsetages 2–7 years
CLN10, congenital, a rare formbefore birth or immediately after birth
CLN10, late infantile onset, a rare formage 2 years or older

What causes Batten disease?

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

If each parent carries a mutated gene, there is a 25% chance that the child will have Batten disease. If the child only inherits one mutated gene, they will become a carrier of the genetic mutation, making it possible for them to pass it on to their children.

The rare exception is for CLN6 adult onset 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. The symptoms may appear at different stages of life, depending on the disease subtype a person has.

Some common symptoms of Batten disease include:

  • behavioral and personality changes
  • cognitive decline
  • a loss of coordination
  • clumsiness and balance problems
  • slowed movements
  • tremors
  • muscle rigidity
  • a decline in speech skills to the point of becoming nonverbal
  • delayed milestones in infants
  • dementia, psychosis, or hallucinations that can 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 testing: This is the main testing method used to diagnose Batten disease. Doctors can determine whether mutated genes are present both before and after birth.
  • Eye exams: Doctors can use eye exams to test for several eye problems that are common in Batten disease. They can also detect the presence of waste material that the lysosomes have been unable to recycle or break down.
  • Blood or urine tests: Doctors can use these tests to look for certain chemicals and atypical cells present in some forms of Batten disease.
  • Skin or tissue tests: The waste material that builds up in Batten disease is sometimes visible in skin or tissue samples.
  • Imaging tests: MRI and CT scans can help doctors analyze 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 could suggest Batten disease.

What are the treatments for Batten disease?

The treatments for Batten disease focus on alleviating the symptoms and creating the best quality of life possible. Doctors may prescribe anticonvulsant medications to control seizures, and physical therapy may be necessary 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 infantile onset subtype of CLN2.

Is Batten disease curable?

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

Infants and children with Batten disease typically have a much shorter life expectancy than people who develop Batten disease in adulthood. The adult onset Batten disease subtypes may result in 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 their caregivers. You can learn more about the condition, connect with other people facing similar experiences, and find individual and family counseling. 

Summary

Batten disease is a rare genetic condition that primarily affects children. It can lead to neurological symptoms and premature death. The earlier the symptoms begin, the quicker they tend to progress. 

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

Talk with your doctor to find out more about Batten disease.

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Medical Reviewer: Karen Gill, M.D.
Last Review Date: 2022 May 13
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