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Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt
Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells.
There are three main types of NCLS:
NCLS is a type of neurodegenerative disorder. It involves the buildup 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.
Lipofuscinoses are inherited as autosomal recessive traits. That means if both parents carry the trait, each child has:
Treatment depends on the type and extent of symptoms. You may need lifelong assistance and care.
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The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness, and problems with mental function that get worse. If the disease emerges in the first year of life, death by age 10 is likely.
If the disease occurs in adulthood, symptoms will be milder with no vision loss and a normal life expectancy.
The person may become totally dependent on others for help with daily activities.
Call your health care provider if your child shows symptoms of blindness or retardation.
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.
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