Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms 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 ORPHA code 1349 OMIM code - ICD10 code E88.8 ICD11 code - *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