Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. Disease data Klasyfikacja Disease Synonimy Childhood-onset spasticity with variant non-ketotic hyperglycinemia Spasticity-ataxia-gait anomalies syndrome Childhood-onset spasticity with variant non-ketotic hyperglycinemia Spasticity-ataxia-gait anomalies syndrome Kod ORPHA 401866 Kod OMIM 616859 Kod ICD10 E88.8 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