Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. Disease data Klasyfikacja Disease Synonimy Autosomal recessive complex SPG due to Kennedy pathway dysfunction Autosomal recessive spastic paraplegia type 81 Autosomal recessive complex SPG due to Kennedy pathway dysfunction Autosomal recessive spastic paraplegia type 81 Kod ORPHA 506353 Kod OMIM 618768 Kod ICD10 G11.4 Kod ICD11 - *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