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Neuronal ceroid lipofuscinoses (NCLS) - Symptom
Alternative Names
Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt
Symptoms:
- Abnormally increased muscle tone or spasm (myoclonus)
- Blindness or visual disturbance
- Dementia
- Mental retardation with decreasing mental function
- Movement disorder (choreoathetosis)
- Seizures
- Unsteady gait (ataxia)
Signs and tests:
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
- Reviewed last on: 10/25/2007
- Chad Haldeman-Englert, M.D., Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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