Myoclonic Epilepsy Associated With Ragged Red Fibers Overview

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What is the definition of Myoclonic Epilepsy Associated With Ragged Red Fibers?
Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by genetic changes in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with genetic changes in these other genes have additional signs and symptoms. Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.
What are the alternative names for Myoclonic Epilepsy Associated With Ragged Red Fibers?
  • Myoclonic epilepsy with ragged red fibers
  • Fukuhara syndrome
  • MERRF
  • Merrf syndrome
  • Myoclonic epilepsy associated with ragged red fibers
  • Myoencephalopathy ragged-red fiber disease
Who are the top Myoclonic Epilepsy Associated With Ragged Red Fibers Local Doctors?
Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Daniele Orsucci
Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Daniele Orsucci
Lucca, IT 

Daniele Orsucci practices in Lucca, Italy. Ms. Orsucci is rated as a Distinguished expert by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. Her top areas of expertise are Progressive External Ophthalmoplegia, Myoclonic Epilepsy Associated With Ragged Red Fibers, MELAS Syndrome, and Lafora Disease.

Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Valerio Carelli
Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Valerio Carelli
Bologna, IT 

Valerio Carelli practices in Bologna, Italy. Mr. Carelli is rated as a Distinguished expert by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. His top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, Ganglion Cyst, Progressive External Ophthalmoplegia, and Liver Transplant.

 
 
 
 
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Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Yau-huei T. Wei
Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Yau-huei T. Wei
Chang-hua, TNQ, TW 

Yau-huei Wei practices in Chang-hua, Taiwan. Wei is rated as a Distinguished expert by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. Their top areas of expertise are Myoclonic Epilepsy Associated With Ragged Red Fibers, MELAS Syndrome, Lafora Disease, Dentatorubral-Pallidoluysian Atrophy, and Appendectomy.

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What are the latest Myoclonic Epilepsy Associated With Ragged Red Fibers Clinical Trials?
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Enrollment Status: Recruiting
Publish Date: June 05, 2025

Summary: The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center