Problem

Santavuori-Haltia disease

Other Names:
Infantile neuronal ceroid lipofuscinosis
Infantile NCL
Nature:

Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg-Santavuori disease or Santavuori-Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis or Balkan disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982, perhaps 100 with the condition in total today – but relatively common in Finland due to the local founder effect.

Broader Problems:
Neuronal ceroid lipofuscinosis
Related UN Sustainable Development Goals:
GOAL 3: Good Health and Well-being
Problem Type:
G: Very specific problems
Date of last update
04.10.2020 – 22:48 CEST