Mitochondrial DNA-related cardiomyopathy and hearing loss

Orpha code: 1349OMIM code:

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
-

No additional description.

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