/mitochondrial DNA depletion syndrome, encephalomyopathic form

mitochondrial DNA depletion syndrome, encephalomyopathic form

Rare Disease

MONDO:0016796

Also Known As

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.