Definition
Batten disease is the most common form of a group of rare disorders known as neuronal ceroid lipofuscinoses (NCLs). Batten disease is an inherited genetic disorder that causes a build-up of lipopigments in the body’s tissue. Batten disease refers to a juvenile form of NCL, but the other forms of NCL can also be referred to as Batten disease. About 2-4 of every 100,000 births are affected. The forms of NCL include:
- Infantile NCL
- Late infantile NCL
- Juvenile NCL
- Adult NCL
Causes
Batten disease is caused by abnormalities in genes that are involved with the production and use of certain body proteins. The disease results in a build-up of fats and proteins called lipopigments in the cells of the brain, eyes, skin, and other tissues.
Researchers have made progress in identifying the defective enzymes and mutated genes that underlie these disorders, but it is not yet known exactly how the gene mutations cause this build-up of lipopigments.
Risk Factors
A risk factor is something that increases your chances of getting a disease or condition. Since Batten disease is an inherited condition, people at risk include:
- Children of parents with Batten disease
- Children of parents not afflicted with Batten disease, but who carry the abnormal genes that cause the disease
Symptoms
Symptoms of Batten disease include the following:
- Vision loss (an early sign) and blindness
- Muscle incoordination
- Intellectual disability or decreasing mental function
- Emotional disturbances or difficulties
- Seizures
- Muscle spasms
- Deterioration of muscle tone
- Movement problems
Symptoms of Batten disease are similar in each type of the disease. However, the time of appearance, severity, and rate of progression of symptoms can vary depending on the type of the disease. For example:
Infantile NCL (Santavuori-Haltia disease)—symptoms begin to appear between the ages of six months and two years, and progress rapidly. Children with this type generally live until mid-childhood (about age five), though some survive in a vegetative state a few years longer.
Late infantile NCL (Jansky-Bielschowsky disease)—symptoms begin to appear between ages 2-4, and progress rapidly. Children with this type usually live until ages 8-12.
Juvenile NCL (Spielmeyer-Vogt-Sjogren-Batten disease)—symptoms begin to appear between ages 5-8, and progress less rapidly. Those afflicted usually live until their late teens or early 20s; and in some cases, into their 30s.
Adult NCL (Kufs disease or Party's disease)—symptoms usually begin to appear before age 40. Symptoms progress slowly and are usually milder. However, this form of the disease usually does shorten a person's life span.
Diagnosis
Batten disease is often difficult to diagnose because it is so rare. Vision problems are often the first symptoms. Therefore, an initial diagnosis may result from an eye exam. To confirm the diagnosis, tests are taken. These include:
-
Testing to look for evidence of build-up of lipopigments:
- Blood tests
- Urine tests
- Tissue biopsies (skin and rectal) examined with an electron microscope
Skin BiopsyCopyright © Nucleus Medical Media, Inc.
-
Imaging tests to look for specific brain abnormalities:
- MRI scan —a test that uses magnetic waves to make pictures of the inside of the body
- CT scan —a type of x-ray that uses a computer to make pictures of the inside of the body
- Electroencephalogram (EEG) —a test that records the brain's activity by measuring electrical currents through the brain
MRI ScanCopyright © Nucleus Medical Media, Inc.
- Electrical studies of the eyes—to look for vision problems associated with the disease
- DNA analysis—to look for the abnormalities that may cause this disease