/metachromatic leukodystrophy, juvenile form

metachromatic leukodystrophy, juvenile form

Rare Disease

MONDO:0009591

Also Known As

MLD, juvenile formarylsulfatase A deficiency, juvenile formmetachromatic leukodystrophy, juvenile formARSA deficiencyMLDMldarylsulfatase A deficiencycerebral sclerosis diffuse metachromatic formcerebral sclerosis, diffuse, metachromatic formcerebroside sulfatase deficiencyleukodystrophy metachromaticmetachromatic leukodystrophymetachromatic leukodystrophy, adultmetachromatic leukodystrophy, juvenilemetachromatic leukodystrophy, late infantilemetachromatic leukoencephalopathypseudoarylsulfatase A deficiencysulfatide lipidosis

Definition

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.