Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in life with convulsions. Other symptoms are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), dementia, and liver conditions such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness. Researchers believe that Alper's disease is caused by an underlying metabolic defect. A number of individuals with Alper's disease have mutations in the "polymerase-gama" gene, which results in the depletion of mitochondrial DNA. Researchers suspect that Alpers' disease is sometimes misdiagnosed as childhood jaundice or liver failure, since the only method of making a definitive diagnosis is by autopsy or brain biopsy after death.
March of Dimes Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203 |
National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK) National Institutes of Health, DHHS 31 Center Drive, Rm. 9A06 MSC 2560 Bethesda, MD 20892-2560 http://www.niddk.nih.gov Tel: 301-496-3583 TTY: 866-569-1162 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
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Last updated July 02, 2008