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Alternative NamesLipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt
Definition Return to top
Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells.
There are three main types of NCLS:
Causes Return to top
NCLS is a type of neurodegenerative disorder. It involves a build-up of an abnormal material called lipofuscin in the brain. Evidence suggests that NCLS is caused by problems with the brain's ability to remove and recycle proteins.
The disorder may be seen at birth, but it is usually diagnosed much later. Children develop lack of muscle coordination (ataxia), walking problems, sight problems, retardation, and seizures. The younger the person is when the disease appears, the greater the risk for disability and early death.
Lipofuscinoses are inherited as autosomal recessive traits. That means if both parents carry the trait, each child has:
Symptoms Return to top
Exams and Tests Return to top
Treatment Return to top
Treatment depends on the type and extent of symptoms. You may need lifelong assistance and care.
Support Groups Return to top
For information and support, see www.bdsra.org.
Outlook (Prognosis) Return to top
If the disease occurs in adulthood, symptoms will be milder with no vision loss and a normal life expectancy. Those who develop the disease early can have vision problems that progress to blindness, and mental deterioration. If the disease emerges in the first year of life, death is likely by age 10.
Possible Complications Return to top
People with the early-onset forms of the disease typically have visual impairment or blindness. Mental impairment can range from severe retardation at birth to late-onset dementia. There can be severe problems with the nerves that control muscle tone, making the muscles rigid. The person may become totally dependent on others for help with daily activities.
When to Contact a Medical Professional Return to top
Call your health care provider if your child shows symptoms of blindness or retardation.
Prevention Return to top
Genetic counseling is recommended if your family has a known history of NCLS. Prenatal or preimplantation genetic testing may be available depending on the specific type of disease.Update Date: 10/25/2007 Updated by: Chad Haldeman-Englert, M.D., Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.