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NINDS Alpers' Disease Information Page: NINDS
Article title: NINDS Alpers' Disease Information Page: NINDS
Conditions: Alper's disease
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.
Selected references
Narkewicz, M, et al.
Liver Involvement in Alpers Disease.
Journal of Pediatrics, 119:2; 260-267 (August 1991).
Rowland, L (ed).
Merritt's Textbook of Neurology. 8th
edition, Lea & Febiger, Philadelphia, p. 553 (1989).
Worle H, et. al .
Progressive cerebral degeneration of
childhood with liver disease (Alpers). Clinical Neuropathology, 17:2:63-8
(March/April 1998).
Thoene, JG (ed.).
Physicians' Guide to Rare Diseases. Dowden
Publishing Company, Inc., Montvale, NJ, p. 291 (1992).
March of Dimes Birth Defects Foundation
1275 Mamaroneck
Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
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 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel:
203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481
This fact
sheet is in the public domain. You may copy it.
Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
» Next page: NINDS Alternating Hemiplegia Information Page: NINDS
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