Myoclonus with epilepsy with ragged red fibers

Common Name(s)

Myoclonus with epilepsy with ragged red fibers, MERRF

MERRF is a disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia.  Symptoms usually first appear in childhood after normal early development but symptoms can also first occur in adulthood.  Symptoms vary widely from individual to individual and the course may be slowly progressive or rapidly downhill.  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) .  The condition is caused by mutations - that can be detected with genetic testing in 90% of affected individuals - in the mitochondrial gene called MT-TK.  The seizure disorder is treated with conventional anticonvulsant therapy.  Coenzyme Q10 and L-carnitine are often used in hopes of improving mitochondrial function.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myoclonus with epilepsy with ragged red fibers" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myoclonus with epilepsy with ragged red fibers" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Myoclonus with epilepsy with ragged red fibers" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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The terms "Myoclonus with epilepsy with ragged red fibers" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study - Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Mitochondrial DNA Mutation

 

Last Updated: 29 Jul 2013

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 18 Nov 2013

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Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Inherited Mitochondrial Disease, Including Leigh Syndrome

 

Last Updated: 2 Jul 2014

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