Progressive Sclerosing Poliodystrophy
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What is Alpers' Disease?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat is Alpers' Disease?
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 Alpers' disease is caused by an underlying metabolic defect. Some patients have mutations in 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.
Is there any treatment?
There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants
may be used to treat the seizures. Valproate should be used with caution since it can increase the risk of liver failure.
Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
What is the prognosis?
The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of
life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure may also occur.
What research is being done?
The NINDS supports research on gene-linked neurodegenerative disorders such as Alpers' disease. The goals of this research
are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.
Select this link
to view a list of studies currently seeking patients.
Organizations
March of Dimes Birth Defects 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
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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
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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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Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by
or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Last updated February 14, 2007
