Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms 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 ORPHA code 199343 OMIM code 612780 ICD10 code G40.4 ICD11 code 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