To use all functions of this page, please activate cookies in your browser.
With an accout for my.bionity.com you can always see everything at a glance – and you can configure your own website and individual newsletter.
- My watch list
- My saved searches
- My saved topics
- My newsletter
Alpers' disease, also called Alpers' syndrome, progressive neuronal degeneration of childhood, progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings.
Additional recommended knowledge
First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive 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. Deafness may also occur. 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. Pathologically, there is status spongiosus of the cerebral grey matter.
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.
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.
"Alpers' Disease Information Page". (Website). National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.
"Non-Profit Organization". (Website). Dedicated to research and education for mitochondrial diseases
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Alpers'_disease". A list of authors is available in Wikipedia.|