Metachromatic leukodystrophy

MLD is a progressive, genetic demyelinating condition resulting from disruption of the action of arylsulfatase A with the accumulation of sulfated glycolipids in the nervous system of affected individuals. All the genetic leukodystrophies result in the loss of previously acquired skills, spasticity, cortical vision loss, and lead to spastic quad-riparesis with bulbar dysfunction and the diagnosis rests on the accurate biochemical or genetic diagnosis. Curative therapy has been elusive, but the use of hematopoietic stem cell transplantation offers in selected individuals the ability to arrest the disease. Symptomatic care remains a mainstay for individuals and their families who are too advanced for transplantation.