[Diagnosis and therapy of mitochondrial diseases]

Ideggyogy Sz. 2012 Jul 30;65(7-8):229-37.
[Article in Hungarian]

Abstract

Mitochondrial diseases are a significant part of neuromuscular diseases. Majority of them is multisystemic disorder. The diagnosis can be established in more and more cases. Beyond the routine neurological examination imaging methods (MRI and MR-spectroscopy) and electrophysiology (EMG, ENG, EEG, evoked potential tests) might be helpful in setting the diagnosis. Raised blood lactate level supports the diagnosis. Muscle biopsy demonstrates mitochondrial abnormalities in the majority of cases. The positivity of genetic tests is low, because the amount of mitochondrial DNA alterations is different in tissues. Therefore other tissue than blood (mainly muscle) is necessary for genetic tests. The other reason is that the respiratory chain is under double -mitochondrial and nuclear - genetic control, and testing the nuclear genes are available only in selected laboratories. The treatment is limited, mainly symptomatic.

Publication types

  • Review

MeSH terms

  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / therapy*
  • DNA, Mitochondrial / metabolism
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Testing
  • Humans
  • Intestinal Pseudo-Obstruction / diagnosis
  • Intestinal Pseudo-Obstruction / therapy
  • Kearns-Sayre Syndrome / diagnosis
  • Kearns-Sayre Syndrome / therapy
  • Leigh Disease / diagnosis
  • Leigh Disease / therapy
  • MELAS Syndrome / diagnosis
  • MELAS Syndrome / therapy
  • MERRF Syndrome / diagnosis
  • MERRF Syndrome / therapy
  • Mitochondrial Diseases / classification
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / drug therapy
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / therapy*
  • Mitochondrial Encephalomyopathies / diagnosis*
  • Mitochondrial Encephalomyopathies / therapy*
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / therapy
  • Muscular Dystrophy, Oculopharyngeal
  • Ophthalmoplegia / congenital
  • Ophthalmoplegia, Chronic Progressive External / diagnosis
  • Ophthalmoplegia, Chronic Progressive External / therapy
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / therapy
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / therapy

Substances

  • DNA, Mitochondrial

Supplementary concepts

  • Neuropathy ataxia and retinitis pigmentosa
  • Visceral myopathy familial external ophthalmoplegia