Metachromatic leukodystrophy, adult form

Orpha code: 309271OMIM code:

Definition

A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.

Disease data
Classification

Clinical subtype

Synonyms
Arylsulfatase A deficiency, adult form
MLD, postać dorosła
Niedobór arylsulfatazy A, postać dorosła
MLD, adult form
ORPHA code
309271
OMIM code
-
ICD10 code
E75.2
ICD11 code
-

No additional description.

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