has material basis in germline mutation in ARSA metachromatic leukodystrophy, juvenile form https://www.malacards.org/card/metachromatic_leukodystrophy metachromatic leukoencephalopathy Orphanet:309263 GARD:0021329 OMIM:250100 NANDO:1200080 MONDO:0009591 arylsulfatase A deficiency ARSA deficiency 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. arylsulfatase A deficiency, juvenile form MEDGEN:155528 NANDO:2201203 metachromatic leukodystrophy, juvenile form cerebral sclerosis diffuse metachromatic form sulfatide lipidosis SCTID:44359008 MLD, juvenile form MLD cerebroside sulfatase deficiency leukodystrophy metachromatic UMLS:C0751276 metachromatic leukodystrophy