Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. Disease data Klasyfikacja Disease Synonimy Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome Drgawki - głuchota czuciowo-nerwowa - ataksja - niepełnosprawność intelektualna - brak równowagi elektrolitowej Zespół SeSAME Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome SeSAME syndrome Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome Kod ORPHA 199343 Kod OMIM 612780 Kod ICD10 G40.4 Kod ICD11 LD2H.Y *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