Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. Disease data Klasyfikacja Malformation syndrome Synonimy Maternally-inherited cardiomyopathy and deafness Kardiomiopatia związana z tRNA-LYS - utrata słuchu mtDNA-related cardiomyopathy and deafness mtDNA-related cardiomyopathy and hearing loss tRNA-LYS-related cardiomyopathy-hearing loss syndrome Kod ORPHA 1349 Kod OMIM - 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