The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Alpers Syndrome
Alternative Names: Progressive Infantile Poliodystrophy; Progressive Cerebral Poliodystrophy; Diffuse Cerebral Degeneration in Infancy; Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis
Disease Category: Mitochondrial Disorders
A rare, progressive, neurological disorder characterized by loss of gray matter (nerve cell bodies) in the brain and severe liver disease. Signs typically manifest between 3 months to 5 years of age, including: psychomotor regression (loss of cognitive and motor abilities), seizures that are resistant to medications, and liver damage. Other manifestations include: spasticity (muscle rigidity), hyperreflexia (exaggerated reflexes), ataxia (lack of coordination), muscle twitching, partial paralysis (decreased movement), jaundice, cirrhosis, optic nerve atrophy (wasting), and blindness. The cause is genetic, but liver dysfunction may be triggered by environmental factors particularly administration of valproic acid.
Research groups studying this disease
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.