Details of Disease
General Information of Disease (ID: DIS4R581)
| Disease Name | Mitochondrial DNA depletion syndrome, encephalomyopathic form | |||||
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| Synonyms | mtDNA depletion syndrome, encephalomyopathic form | |||||
| Definition |
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
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