This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Myoclonic epilepsy and ragged-red fibre disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

MERRF is a maternally inherited neurodegenerative disorder.

Within an affected family, maternal relatives progress through the following stages of the disease:

  • myopathy
  • neurosensory deafness
  • myoclonic epilepsy
  • progressive dementia
  • hypoventilation
  • cardiac failure
  • renal failure
  • death

This degenerative neurological disease is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.

The clinical severity correlates with the loss of oxidative phosphorylation complexes in the mitochondria.

Related pages

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.


Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.