Metachromatic leukodystrophy, juvenile form
Engelsk navn: Metachromatic leukodystrophy, juvenile form
Engelske synonym: Arylsulfatase A deficiency, juvenile form,MLD, juvenile form
Definisjon
A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.
Fra Orphanet
ORPHA: 309263
Klassifiseringsnivå: Subtype of disorder
ICD-10: E75.2
