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Alpers' Disease Synonym(s): Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Alpers' Disease?Is there any treatment? What is the prognosis? What research is being done? Organizations 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? What is the prognosis? What research is being done? March of Dimes Birth Defects Foundation
National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK)
National Organization for Rare Disorders (NORD)
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