Batten disease (NCL): diagnosis, treatment, and outlook

Batten disease is the name given to a group of genetic disorders, also referred to as neuronal lipofuscinosis (NCLs). It affects both children and adults.

There are 13 types of NCLs that fall under Batten disease. They are classified according to:

  • Beginning eras
  • their symptoms
  • severity

There is no cure for Batten disease, so treatment involves addressing symptoms as they arise.

Around 2 to 4 out of every 100,000 children In the United States it is affected by this inherited metabolic condition. Here’s more about what causes it, what the symptoms are, and what to expect for your child.

Batten disease is a class of rare, fatal genetic disorders that affect the nervous system.

Batten disease occurs when mutations in genes affect very small parts of cells called lysosomes. Lysosomes break down waste inside the cell so that it can be disposed of or recycled. When this disposal or recycling process is disrupted, it causes cellular waste to build up which in turn causes symptoms in the body.

Children and adults with Batten disease may not notice signs of it until symptoms have worsened.

The time frame for symptoms to appear varies widely depending on which subtype of Batten disease a person has. What may start as mild symptoms may become more serious over time.

For infants and young children, Batten disease may eventually lead to death, according to National Institute of Neurological Disorders and Stroke (NINDS). When the condition appears later or appears in adulthood, it may not affect human life expectancy.

Symptoms of Batten disease range in severity and can begin at almost any age — from shortly after birth through puberty.

Early symptoms include:

  • seizures
  • deterioration of eyesight
  • Developmental delays or learning problems
  • Loss of previous skills
  • mental illness
  • Trouble with balance or movement

As the condition progresses, symptoms may worsen and include:

  • Mood or behavior change
  • sleep fears
  • Movement or gross motor issues
  • muscle spasms or involuntary spasms
  • confusion
  • learning difficulties
  • complete vision loss
  • heart concerns
  • paralysis
  • Parkinsonism (movement problems)
  • spasticity (muscle stiffness)

Batten disease is a genetic disorder that is also called a genetic disorder. This happens when a defect in the parents’ genes is passed on to their child.

The gene that causes Batten disease is autosomal recessive. This means that it does not cause symptoms unless a person inherits the disease-causing gene from both parents.

If a person has only one copy of the gene, they will not have symptoms. However, they will still be carriers of the condition because they can pass the gene on to their child.

according to NINDSParents who are carriers of the disease-causing gene have:

  • 1 in 4 (25 percent) chance of having a baby with Batten disease
  • 2 in 4 (50 percent) chance that their child will be a carrier of Batten disease
  • 1 in 4 (25 percent) chance that their child will inherit only the ‘normal’ genes

There are 13 types of Batten disease. Each is classified according to the affected gene that causes them, such as CLN1, CLN2, etc.

Other important things to note are:

  • starting age
  • Symptoms and severity
  • The rate at which these symptoms progress or worsen

Usually, people with 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 forms seen in adults, according to the NINDS.

The 13 types of Batten disease include:

CLN1 (baby appearance)

Symptoms usually appear before a child is 12 months old. As a result, the child may not learn to stand, walk or talk or may lose these skills quickly. At the age of two years, the child may be blind. At 3 years old, a child may need a feeding tube and full-time care. Life expectancy generally does not extend beyond mid-childhood.

CLN1 (start of event)

This subtype develops between the ages of 5 and 6. The progression of symptoms is generally slower and includes the same symptoms found in the subtype that begins in infants. Children may live to adolescence or later adulthood.

CLN2 (late childhood onset)

Symptoms appear by the time the child is two years old and include things like seizures, difficulty walking, and difficulty speaking. Muscle spasms (called myoclonic tremors) may develop by the time a child is between 4 and 5 years old. As symptoms worsen, children become more dependent on caregivers. Average life expectancy is between 6 and 12 years.

CLN2 (start event)

Ataxia, or loss of coordination, is usually the first sign of this subtype. It affects children starting at age 6 or 7. Children may live through their teen years.

CLN3 (start of event)

With this subtype, children between the ages of 4 and 7 may lose their sight quickly. Seizures and learning and behavior issues begin by the time a child reaches the age of 10. Track movement problems for older children and teens. Average life expectancy is between 15 and 30 years.

CLN4 (adult onset)

This rare subtype does not appear until a person reaches adulthood, about 30 years of age. It is characterized by dementia and movement problems and does not necessarily affect life expectancy.

CLN5 (Late childhood onset)

While children may develop at an expected rate in their early years of life, behavior problems 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. Babies may live into their teens, but they may need a feeding tube or other support.

CLN6 (late childhood onset)

Seizures, behavioral changes, and developmental delays may appear in the preschool years with this subtype. Children may lose previous skills, such as speaking, walking and playing. Vision loss, sleep problems, and muscle cramps are also possible. Life expectancy is generally between late childhood and early teenage years.

CLN6 (adult onset)

With the onset of precocious puberty, this subtype affects muscle control in the arms and legs and may cause seizures. As a result, a person may have difficulty walking or moving in general. Another characteristic of this subtype is slow cognitive decline.

CLN7 (Late childhood onset)

Ages of onset range from 3 to 7 years and is characterized by seizures or epilepsy and loss of developmental skills. Over time, the child may also develop muscle cramps and trouble sleeping. With this subtype, there is a marked increase in symptoms when a child is between 9 and 11 years old, but most children live into their teen years.

CLN8 EPMR (Event Onset)

EPMR stands for “epilepsy with progressive mental retardation”. With this subtype, children experience seizures, cognitive decline, and sometimes a loss of speech starting at ages 5-10. The seizures may become less frequent as the child gets older. Children may live into adulthood.

CLN8 (Late variant start)

Symptoms of this subtype begin to appear sometime between 2 and 7 years old. Initial symptoms include vision loss, cognitive problems, treatment-resistant epilepsy, changes in behavior, and muscle spasms. Cognition problems tend to worsen around age 10. Life expectancy is variable, with some people living into their 20s.

CLN10

This very rare subtype can begin at birth, childhood, or adulthood. Some children may have microcephaly (microcephaly). This subtype can be divided into two variants:

  • congenital Seizures appear before or shortly after birth. Other symptoms include breathing problems or sleep apnea. Life expectancy is short – a few weeks after birth.
  • late childhood. Seizures, vision loss, balance and cognition issues are characteristic of this form. It has a late onset and slower development than congenital. Life expectancy generally does not exceed childhood.

Batten disease is most commonly diagnosed using genetic testing, according to NINDS.

Your doctor may order genetic testing after recording your child’s medical history, listening to his or her family’s health history, and observing certain signs or characteristics of the disorder.

Other tests that may be used to diagnose Batten disease include:

  • Measurement of enzyme activity: Helps confirm or rule out CLN1 and CLN2 Batten disease
  • Skin or tissue sampling: May help detect skin and tissue changes compatible with Batten disease
  • Blood or urine test: Changes that may indicate the presence of Batten disease can be detected

These tests may 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 and MRI scans can help see changes in the brain that may result from Batten disease.

Vision loss is an early symptom of many of the subtypes. Experts share that an eye exam may help detect Batten disease in its early form by noticing the loss of cells inside the eye. These results should be confirmed by further testing.

There is no cure for Batten disease NINDS. Treatment generally cannot reverse disease progression, and instead focuses on treating symptoms and improving quality of life.

However, the Food and Drug Administration (FDA) has approved treatment for the CLN2 subtype. It’s an enzyme replacement therapy called cerliponase alfa (Brenora). This treatment may slow or even stop the progression of this subtype of Batten disease — but only this subtype and no other.

Other treatment options for symptoms may include:

The outlook for Batten disease depends on the subtype and the individual person with the condition.

Some of the subspecies have aggressive progression and lead to a long life expectancy. Others cause symptoms to develop more slowly and may extend life expectancy.

Individuals dealing with any subtype are likely to need frequent medical care and additional support with daily tasks. Many forms of Batten disease can leave a person unable to walk, talk, see, eat, or take care of themselves.

While there is no cure for this condition, there are many treatments available that can improve your child’s quality of life and comfort. In some cases, treatment may slow or stop the progression of the disease.

If your child has been diagnosed with Batten disease, your doctor can give you more details about the subtype and the outlook for that subtype.

If you are a caregiver for someone with Batten disease, you are not alone. Contact your doctor to find support near you. In addition, the Batten Disease Support & Research Association website provides resources for finding support in person and online.

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