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Metachromatic leukodystrophy, juvenile form

MONDO:0009591

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.

Also known as: MLD, juvenile form, arylsulfatase A deficiency, juvenile form, metachromatic leukodystrophy, juvenile form, ARSA deficiency, MLD, Mld, arylsulfatase A deficiency, cerebral sclerosis diffuse metachromatic form

11 clinical trials for this condition and its sub-types.

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Sub-types

Metachromatic leukodystrophy, late infantile form (2) Metachromatic leukodystrophy, adult form (0)

Broader categories

Dementia (698) Disease (680) Psychiatric disorder (435) Cognitive disorder (433) Metabolic disease (233) Nervous system disorder (231) Inherited lipid metabolism disorder (189) Hereditary disease (176) Neurodegenerative disease (171) Peripheral nervous system disorder (114)
Trials to join now! 6 Not yet finished but already full! 1 Completed 3 Terminated 1
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