Search for a rare disease
Other search option(s)
Metachromatic leukodystrophy, adult form
Disease 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.
ORPHA:309271
Classification level: Subtype of disorder- Synonym(s):
- Arylsulfatase A deficiency, adult form
- MLD, adult form
- Prevalence: Unknown
- Inheritance: -
- Age of onset: Adult
- ICD-10: E75.2
- OMIM: -
- UMLS: C0751279
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Clinical practice guidelines
- Deutsch (2016)
- Clinical genetics review
- English (2020)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.