Mitochondrial diseases: differential diagnosis

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Mitochondrial diseases: differential diagnosis. Epilepsy, Stroke, CADASIL, Autoimmune encephalitis, Parkinsonism. Fully referenced neurology checklist.

Cerebral

  • Epilepsy
  • Stroke
  • CADASIL
  • Autoimmune encephalitis
  • Parkinsonism
  • Multiple sclerosis (MS)

Neuromuscular

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Ataxic

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Ophthalmic

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Acronym

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References

  1. Martikainen MH, Chinnery PF. Mitochondrial disease: mimics and chameleons. Pract Neurol 2015; 15:424-435. 
  2. Della Marina A, Bertolini A, Wegener-Panzer A, et al. Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially. Eur J Paediatr Neurol 2022; 41:27-35.
  3. Garcia-Cazorla A, Duarte S, Serrano M, et al. Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion 2008; 8:273-278. 
  4. Weisfeld-Adams JD, Katz Sand IB, Honce JM, Lublin FD. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis. Brain 2015; 138:517-539. 
  5. Finsterer J, Zarrouk-Mahjoub S. Mitochondrial disorders may mimic amyotrophic lateral sclerosis at onset. Sultan Qaboos Univ Med J 2016; 16:e92-e95.
  6. And 1 more. Subscribe to see the full list

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