Home > Encyclopedia of Neurological Disorders > Metachromatic Leukodystrophy

Definition

Metachromatic leukodystrophy (MLD) is a rare degenerative neurological disease, and is the most common form of the leukodystrophies, a group of disorders affecting the fatty covering that acts as an insulator around nerve fibers known as the myelin sheath. With destruction of the myelin sheath, progressive deterioration of muscle control and intellectual ability occurs. Metachromatic leukodystrophy is inherited as an autosomal recessive trait, meaning that that the disease is inherited from parents that are both carriers, but do not have the disorder. There are three forms of MLD, distinguished by the age of onset and by the molecular defect in the gene underlying the disease.

Description

The late infantile form of metachromatic leukodystrophy, which is the most common form, usually begins in the second year of life...