It is a disease caused by a genetic mutation transmitted in an autosomal recessive manner from parents (healthy carriers) to children. The severity of the clinical picture is usually related to the age at which the disease onset. Generally, the earlier the disease manifests itself, the more severe the condition. Unfortunately, in many cases, the disease begins in childhood and the hopes of survival are rather low, as there is still no definitive cure able to completely counteract metachromatic leukodystrophy. Fortunately, research is progressing in this direction and the recently approved gene therapy (December 2020) could represent a valid tool to ensure patient survival.
which lines the axons of nerve cells (thus, in the nervous system).
Metachromatic leukodystrophy is an autosomal recessive disease; this means that the parents (healthy carriers who are not affected by the disease) have a 25% chance of passing the disease to their children, a 25% chance of having healthy children and a 50% chance of having healthy carrier children.
