Metachromatic leukodystrophy, juvenile form

Orpha code: 309263OMIM code:

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
Arylsulfatase A deficiency, juvenile form
MLD, postać młodzieńcza
Niedobór arylsulfatazy A, postać młodzieńcza
MLD, juvenile form
ORPHA code
309263
OMIM code
-
ICD10 code
E75.2
ICD11 code
-

No additional description.

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