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    Neuronal ceroid lipofuscinoses (NCLS)

    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:

    • Adult (Kufs' or Parry's disease)
    • Juvenile (Batten disease)
    • Late infantile (Jansky-Bielschowsky)

    Causes

    NCLSinvolves the buildup of an abnormal material called lipofuscin in the brain. NCLS is thought to be caused by problems with the brain's ability to remove and recycle proteins.

    Lipofuscinoses are inherited as autosomal recessive traits.

    Symptoms

    • Abnormally increased muscle tone or spasm (myoclonus)
    • Blindness or vision problems
    • Dementia
    • Lack of muscle coordination
    • Intellectual disability
    • Movement disorder (choreoathetosis)
    • Seizures
    • Unsteadywalk (ataxia)

    Exams and Tests

    The disorder may be seen at birth, but it is usually diagnosed much later.

    Tests include:

    • Autofluorescence (a light technique)
    • EEG
    • Electron microscopy of a skin biopsy
    • Electroretinogram
    • Genetic testing
    • MRI or CT scans of the brain
    • Tissue biopsy

    Treatment

    Treatment depends on the type and extent of symptoms. You may need lifelong assistance and care.

    Support Groups

    For information and support, see www.bdsra.org.

    Outlook (Prognosis)

    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 diseasestarts 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.

    Possible Complications

    • Vision impairment or blindness (with the early-onset forms of the disease)
    • Mental impairment, ranging from severedevelopmental delaysat birth to dementia later in life
    • Rigid muscles (due to severe problems with the nerves that control muscle tone)

    The person may become totally dependent on others for help with daily activities.

    When to Contact a Medical Professional

    Call your health care provider if your child shows symptoms of blindness or intellectual disability.

    Prevention

    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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          Review Date: 11/14/2011

          Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

          The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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