Alpers syndrome

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Disease Overview

Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia). [2920]  Most often Alpers syndrome is caused by mutations in the POLG gene. [2921]


Synonyms

  • Alpers disease
  • Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
  • Alpers progressive infantile poliodystrophy
  • Poliodystrophia cerebri progressiva
  • Progressive cerebral poliodystrophy
  • Diffuse cerebral degeneration in infancy
  • Alpers-Huttenlocher syndrome
  • Neuronal degeneration of childhood with liver disease, progressive
  • PNDC
  • Infantile poliodystrophy

For more information, visit GARD.

National Organization for Rare Disorders