What You Need to Know About Batten Disease
The name for a group of genetic disorders is called Batten disease. It affects both people.
There are 13 types of NCLs. They are classified according to their classification.
- The ages of start.
- Their symptoms can be severe.
- Their severity.
Treatment for Batten disease involves addressing symptoms as they arise.
A class of rare, fatal genetic disorders called Batten disease.
There are small parts of cells called lysosomes that are affected by Batten disease. The lysosomes break down the waste in the cell. The disrupted process of discards and recycling causes a build up of cellular waste that causes symptoms in the body.
People with Batten disease may not notice signs of it until they get worse.
The time frame for when symptoms develop varies greatly depending on the type of Batten disease a person has. Mild symptoms may get more serious with time.
For babies and young children, Batten disease may eventually lead to death, according to the
Symptoms of Batten disease can start at any age and can range in severity.
Early symptoms include:
- It is worsening eyesight.
- There are issues with learning.
- Loss of previous skills.
- Balance or movement can be problematic.
Symptoms may get worse as the condition progresses.
- Mood or behavior changes.
- sleep concerns
- Gross motor issues can be movement or gross motor issues.
- There are muscle spasms or tics.
- There is confusion.
- Learning difficulties.
- total vision loss
- There are concerns about the heart.
- parkinsonism (movement issues)
- spasticity (muscle stiffness)
A hereditary disorder is called a Batten disease. This is when a defect in the parents genes is passed on to their child.
The gene that causes Batten disease is autosomal recessive. This means it does not cause symptoms unless a person inherits the disease-causing gene from both parents.
“A person with only one copy of the gene wouldn’t have symptoms. They can pass the condition on to their child.”
- There is a chance of having a child with a disease.
- 2 in 4 of the children will be carriers of the disease.
- A child will inherit only normal genes.
There are 13 different types of Batten disease. The affected genes are classified according to how they cause it.
Important things to note are:
- The age of start.
- symptoms and Their severity.
- The rate at which those symptoms get worse.
Usually, people who develop Batten disease have inherited two copies of the same mutation. In rare cases, a person can inherit two different mutations and may develop a milder form of the condition, especially in the adult-onset forms, according to
There are 13 types of Batten disease.
CLN1 (infantile onset)
“A child’s symptoms usually develop before they are 12 months old. The child may not be able to stand, walk, or talk quickly. The child may be blind by 2 years old. A feeding tube and full-time care may be required by 3 years old. Life expectancy does not extend past mid-childhood.”
CLN1 (juvenile onset)
This type develops between ages 5 and 6. The symptoms are the same as in the infantile-onset subtype. Children can live to adulthood with even later onset.
CLN2 (late infantile onset)
Symptoms develop by the time a child turns 2 years old and include things like Seizures., trouble walking, and trouble talking. Muscle spasms (called myoclonic jerks) may develop by the time a child is between 4 and 5 years old. As symptoms worsen, children become more dependent on caregivers. Life expectancy is between 6 and 12 years old.
CLN2 (juvenile onset)
Ataxia, or loss of coordination, is typically the first sign of this subtype. It affects children starting around age 6 or 7. Children may live through their teen years.
CLN3 (juvenile onset)
With this subtype, children between 4 and 7 years old may rapidly lose their eyesight. Seizures and learning and behavior issues begin by the time a child reaches age 10. Movement issues follow for older children and teenagers. Life expectancy is between 15 and 30 years.
CLN4 (adult onset)
This rare subtype doesn’t appear until a person reaches adulthood, around age 30. It is marked by dementia and movement issues and does not necessarily affect life expectancy.
CLN5 (late infantile onset)
While children may develop at an expected rate in their first years of life, behavior issues and loss of motor skills may appear by the time a child is between 6 and 13 years old. Additional symptoms include Seizures., muscle spasms, and vision loss. Children may live into their teens, but they may need a feeding tube or other support.
CLN6 (late infantile onset)
The preschool years may see behavioral changes and delays with this subtype. Children may lose their previous skills. Vision loss, sleep issues, and muscle twitches are possible. Between late childhood and the early teen years is when life expectancy is most variable.
CLN6 (adult onset)
With onset in early adulthood, this subtype affects muscle control in the arms and legs and may cause Seizures.. As a result, a person may have trouble walking or with motion in general. Another characteristic of this subtype is a slow cognitive decline.
CLN7 (late infantile onset)
Onset is between ages 3 and 7 and is marked by Seizures. or epilepsy and loss of developmental skills. As time goes on, a child may also develop muscle twitches and issues with sleeping. With this subtype, there is a notable increase in symptoms when a child is between 9 and 11 years old, but most kids live to their teen years.
CLN8 EPMR (juvenile onset)
EPMR stands for “epilepsy with progressive mental retardation.” With this subtype, children experience Seizures., cognitive decline, and sometimes a loss of speech starting between ages 5 and 10. The Seizures. may become less frequent as a child gets older. Children may live into adulthood.
CLN8 (late variant onset)
The symptom start time for this type is between 2 and 7 years old. Vision loss, issues with cognitive, treatment-resistant sementy, and changes in behavior are some of the primary symptoms. The issues with cognitive functioning tend to get worse as you get older. Some people live into their 20s.
This very rare subtype can have an onset at birth, childhood, or adulthood. Some children may have a small head (microcephaly). This subtype can be further divided into two different forms:
- Congenital. Seizures appear before birth or soon after birth. Other symptoms include issues with breathing or with sleep apnea. Life expectancy is short — only a few weeks after birth.
- Late infantile. Seizures, vision loss, and issues with balance and cognition are characteristic of this form. It has a later onset and a slower progression than congenital. Life expectancy is generally not beyond childhood.
Batten disease is most commonly diagnosed using genetic testing, according to
Your doctor may order genetic tests for your child after observing certain signs and symptoms of the disorder.
Other tests may be used to diagnose Batten disease.
- Enzyme activity measurement: helps confirm or rule out CLN1 and CLN2 type Batten disease
- Skin or tissue sampling: may help discover skin and tissue changes consistent with Batten disease
- Blood or urine testing: can detect changes that may indicate the presence of Batten disease
These tests can be used to diagnose and monitor the effects of Batten disease.
- Electroencephalogram (EEG). An EEG may show the brain’s electrical activity that indicates Seizures. or other electrical patterns that may be caused by Batten disease.
- Imaging tests. CT scans and MRI scans can help see changes in the brain that may result from Batten disease.
Vision loss is an early symptom of many subtypes. Experts share that an eye exam may help detect Batten disease in its early form by noting the loss of cells inside the eyes. These results should be confirmed with further testing.
There is no cure for Batten disease, per
The FDA approved a treatment for the CLN2 subtype. The therapy is called cerliponase alfa and it is anidase replacement. This treatment may slow or even stop the progression of this subtype of Batten disease.
Other treatment options for symptoms could include:
- Antiseizure drugs.
- Depression or anxiety medications are used.
- The medications are used to treat parkinsonism.
- Treatments to treat spasticity.
- Occupational and physical therapy are available.
The outlook for a person with a specific type of Batten disease is dependent on their situation.
Some subtypes have an aggressive progression that shortens life expectancy. Others bring about symptoms more slowly.
Individuals who deal with any type will need medical care and support. A person with a form of Batten disease can be unable to walk, talk, see, eat or take care of themselves.
“There are various treatments that can improve your child’s quality of life and comfort, even though this condition does not have a cure. Treatment may slow or stop the disease progression.”
If your child has been diagnosed with a disease, your doctor can give you more information about the disease and its subtypes.
If you’re a caregiver for someone with Batten disease, you are not alone. Reach out to your doctor to find support near you. In addition, the Batten Disease Support & Research Association website provides resources to find support both in person and online.