What is Alpers' Disease?
Alpers' disease is a rare, progressive neurodegenerative disease of the brain that occurs in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), and dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified.
Is there any treatment?
There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may 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. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur.
What research is being done?
The NINDS supports research on genetic 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
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Bldg. 31, Rm. 9A04
Bethesda, MD 20892-2560
http://www.niddk.nih.gov
Tel: 301-496-3583
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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