What is batten disease

Some children die in early childhood, while others may be able to live into their teens or twenties. Worldwide, roughly 14, children are known to have Batten disease. In the U. There is currently no cure. Batten disease is actually a family of related disorders also known as neuronal ceroid lipofuscinoses.

Because the disease is recessive, children must have two copies of a CLN mutation — one from each parent — to be affected. Siblings of affected children have a one in four chance of also developing the disease, and a 50 percent chance of being a carrier. The cells try to compensate by making more lysosomes, which get larger and larger and eventually release their contents into the cell. The cells eventually get overwhelmed and die.

Eventually, children with Batten disease become blind, bedridden and demented. Batten disease is often fatal by the late teens or twenties. Click here for the latest Australian research papers on Batten Disease. Thanks to the internet, people can access information and support from organisations in Australia and overseas, which are listed below. There are also communities on social media, where you can connect with people to discuss your experiences and management strategies.

We have found some support groups via Facebook that you might find helpful which are listed below. Support Group: facebook. If you see medical advice being shared, please consult your doctor or neurologist. Batten Disease. Description Batten Disease is a fatal, inherited disorder of the nervous system that begins in childhood. Treatment As yet, no specific treatment is known that can halt or reverse the symptoms of Batten Disease or other NCLs.

Prognosis Affected children suffer increasing mental impairment, worsening seizures, and progressive loss of sight and motor skills. What Is Batten Disease. Home » What Is Batten Disease. Batten disease, or Neuronal Ceroid Lipofuscinosis NCL , is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body. Every year, hundreds of children and their families cope with the diagnosis of Batten disease with strength, courage and commitment.

Patients with Batten disease suffer progressive neurological impairment because of their damaged cells. By age 6 most children are completely dependent on their caregivers, and many will require a feeding tube.

Most children with CLN2 disease die between the ages of 6—12 years. CLN2 disease, later-onset Some children with CLN2 abnormalities develop the disease later in childhood —around age 6 or 7—and have slower disease progression. In later-onset CLN2 disease, loss of coordination ataxia may be the initial symptom. The gene directs the production of a protein called battenin, which is found in the membranes of the cell.

Most children suffering from CLN3 disease have a missing part in the gene which in turn results in inability for the protein to be produced. Rapidly progressive vision loss begins between ages 4 and 7. Children develop learning and behavior problems, and slow cognitive decline dementia and then start having seizures around age In the teenage years, children affected by CLN3 disease develop slow movement, stiffness, and loss of balance also referred as parkinsonism. They also develop difficulty with speech and language.

As they age, children and teenagers become increasingly dependent on their caregivers. Most children with the disease die between the ages of 15 and CLN4 disease, adult onset Also known as Kufs disease type B, this very rare form typically begins in early adulthood normally around age 30 and causes problems with movement and early dementia. The symptoms progress slowly, and CLN4 disease does not cause blindness. The age of death varies among affected individuals. CLN5 disease, variant late-infantile onset This disease is caused by problems with a lysosomal protein called CLN5, whose function is unknown.

The CLN5 gene is located on chromosome Children progress normally for the first few years of life before they start losing skills and develop behavior problems. Seizures and myoclonic jerks begin usually between ages 6 and Vision deteriorates and is eventually lost.

Children have learning disabilities and problems with concentration and memory. Some may need a feeding tube. Most children with CLN5 live into their late childhood or teenage years.

The protein is found in the membranes of the cell most predominantly in a structure called the endoplasmic reticulum. Its function has not been identified. Symptoms vary among children, but typically start after the first few years of life and include developmental delay, changes in behavior, and seizures. Children eventually lose skills for walking, playing, and speech. They also develop myoclonic jerks, problems sleeping, and vision loss.

Most children with CNL6 die during late childhood or in their early teenage years. CLN6, adult onset Also known as Kufs disease Type A, this form of CLN6 disease shows signs in early adulthood that include epilepsy, inability to control muscles in the arms and legs resulting in a lack of balance or coordination, or problems with walking , and slow but progressive cognitive decline. CLN7, variant late-infantile onset This disease is caused by mutations in the CLN7 gene located on chromosome 4, which produces the protein MFSD8—a member of a protein family called the major facilitator superfamily.

This superfamily is involved with transporting substances across the cell membranes. As with all the other forms of Batten disease, the defect in the gene results in lack of production of the protein. Developmental delays begin after a few years of what seems to be a normally-developing child.

Children usually develop epilepsy between the ages of 3 and 7, along with problems sleeping and myoclonic jerks. Children begin to lose the ability to walk, play, and speak as the disease progresses, with a rapid advancement of symptoms seen between the ages of 9 and Most children with the disorder live until their late childhood or teenage years. The gene, located on chromosome 8, encodes a protein also called CLN8, which is found in the membranes of the cell—most predominantly in the endoplasmic reticulum part of the recycling-bin machinery of the cell.