Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life. Disease data Classification Clinical subtype Synonyms Arylsulfatase A deficiency, late infantile form MLD, postać niemowlęca późna Niedobór arylsulfatazy A, postać niemowlęca późna MLD, late infantile form ORPHA code 309256 OMIM code - ICD10 code E75.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl