MERRF: investigations

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

MERRF: investigations. Cerebral, Cerebellar, Superior cerebellar peduncle, Brainstem atrophy. Fully referenced neurology checklist.

Magnetic resonance imaging (MRI) brain: atrophy sites

  • Cerebral
  • Cerebellar
  • Superior cerebellar peduncle
  • Brainstem atrophy

Magnetic resonance imaging (MRI) brain: lesion sites

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Muscle biopsy

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Blood tests

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Cerebrospinal fluid (CSF) analysis

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Electroencephalogram (EEG)

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Electromyogram (EMG)

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Other investigations

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Acronym

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References

  1. Lorenzoni PJ, Scola RH, Kay CS, Silvado CE, Werneck LC. When should MERRF) myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? Arq Neuropsiquiatr 2014; 72:803-811.
  2. Nordli DR 3rd, Natarus D, Yano S, Nordli DR Jr. Eye closure sensitivity as a novel EEG marker of MERRF. Epilepsia Open 2024; 9:2000-2002. 

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