Alper's disease; progressive sclerosing poliodystrophy

Pathology

• progressive degeneration of grey matter of the cerebrum

Genetics

• mutations in mitochondrial DNA in some patients

Clinical manifestations

• convulsions early in life, unrelenting eventually leading to death
• developmental delay
• progressive mental retardation
• hypotonia
• spasticity
• dementia
• jaundice
• cirrhosis may lead to liver failure
• optic atrophy may occur resulting in blindness

Management

• treatment symptomatic & supportive
• anticonvulsants for seizures
  • avoid valproic acid (may increase risk of liver failure)
• physical therapy for spasticity

Prognosis:

• no cure & no way to slow progression
• death in 1st decade of life

More general terms

• neurodegenerative disease

Patient information

Alper's disease patient information