Battens disease

Early signs may be subtle personality and behavioral changes, slow learning or regression, repetitive speech or echolaliaclumsiness, or stumbling.

Battens disease

Dementia Speech and motor skills problems that get worse over time There are four major types of Batten disease.

Batten disease - Wikipedia

The type will determine the age when symptoms occur and how fast they develop. The Types Originally, doctors only referred to one form of NCL as Battens disease disease, but now the name refers to the group of disorders. Of the four major types, the three that affect children all cause blindness.

Congenital NCL affects babies and can cause them to be born with seizures and abnormally small heads microcephaly. It also can cause microcephaly, as well as sharp contractions jerks in the muscles. Most children with INCL die before they turn 5 years old.

It includes the loss of muscle coordination. LINCL is usually fatal by the time a child is 8 to 12 years old. People who have it have shorter life spans, but the age of death can vary from person to person. The symptoms of ANCL are milder and they tend to progress more slowly.

This form of the disease does not result in blindness. Since vision loss is usually one of the earliest signs of the disease, eye doctors can be the first ones to suspect a problem. Multiple exams and tests might be needed before your doctor makes a diagnosis. Doctors often refer children to neurologists if they think they need more tests.

There are different kinds of tests a neurologist can use to diagnose Batten disease: Tissue samples or eye exam: By examining tissue samples under a microscope, doctors can look for the buildup of certain kinds of deposits.

As the deposits build up over time, they can cause pink and orange circles to develop.

Battens disease

Doctors can look for certain kinds of abnormalities in blood and urine samples that can indicate Batten disease. CT computed tomography scans or MRIs magnetic resonance imaging can help a doctor see if there are certain changes in the brain that indicate Batten disease.

If you know members of your family have Batten disease, you can get a DNA test to confirm a diagnosis.

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Symptoms like seizures can be improved with certain medications. Other symptoms and issues can be treated too. Some people with Batten disease get physical or occupational therapy to help them function.

Scientists continue to research possible treatments and therapies.Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body. These genetic mutations disrupt the cells' ability to dispose of wastes.

Batten Disease News is strictly a news and information website about the disease.

What is Batten disease?

It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Batten disease (Neuronal Ceroid Lipofuscinoses) is an inherited disorder of the nervous system that usually manifests itself in childhood.

Battens disease

Batten disease is named after the British paediatrician who first described it in Batten disease is an extremely rare and fatal disorder that affects the nervous system. Most children begin to show symptoms between five and ten years old, when a previously healthy child may begin to exhibit signs of seizures or vision issues.

Mila's Miracle Foundation to Stop Batten is dedicated to finding a cure for Batten Disease. By funding groundbreaking gene therapy research, we hope to save Mila's life and the lives of children like her diagnosed with the CLN7 variant of Batten Disease.

Jul 24,  · Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs.

In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle.

Batten disease - Wikipedia