Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
MERRF
Introduction
Overview
Overview
MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease.
Historical Perspective
Historical Perspective
Classification
Classification
Presentation
It involves the following characteristics:
- progressive myoclonic epilepsy
- clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as “ragged-red fibers” when muscle is stained with modified Gomori trichrome stain
- short stature
Pathophysiology
Pathophysiology
Causes
Causes
The MERRF syndrome 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.
Genes involved include MT-TK, MT-TL1, MT-TH, MT-TS1, MT-TS2, and MT-TF.[1]
Differentiating MERRF syndrome from Other Diseases
Differentiating MERRF syndrome from Other Diseases
Epidemiology and Demographics
Epidemiology and Demographics
Risk Factors
Risk Factors
Screening
Screening
Natural History, Complications, and Prognosis
Natural History, Complications, and Prognosis
Diagnosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Treatment
Medical Therapy
Surgery
Prevention
External links
External links
- MERRF+Syndrome at the US National Library of Medicine Medical Subject Headings (MeSH)
- Template:GPnotebook
- merrf at NIH/UW GeneTests
References
References
- ↑ “OMIM – MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF”. Retrieved 2007-11-23.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: