National Organization for Rare Disorders, Inc.
It is possible that the main title of the report MERRF Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Fukuhara syndrome
- myoclonus epilepsy associated with ragged red fibers
- myoencephalopathy ragged-red fiber disease
MERRF (Myoclonus Epilepsy with Ragged-Red Fibers) syndrome is an extremely rare disorder that begins in childhood and affects the nervous system and skeletal muscle as well as other body systems. The distinguishing feature in MERRF is myoclonus, consisting of sudden, brief, jerking spasms that can affect the arms and legs or the entire body. In addition, individuals with MERRF syndrome may have muscle weakness (myopathy), an impaired ability to coordinate movements (ataxia), seizures, and a slow deterioration of intellectual function (dementia). Short stature, degeneration of the optic nerve (optic atrophy), hearing loss, cardiomyopathy and abnormal sensation from nerve damage (peripheral neuropathy) are also common symptoms. Abnormal muscle cells are present and appear as ragged red fibers (RRF) when stained with the modified Gomori trichrome and viewed microscopically. MERRF is caused by mutations in mitochondrial DNA (mtDNA).
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
United Mitochondrial Disease Foundation
8085 Saltsburg Road
Pittsburgh, PA 15239
Lactic Acidosis Support Trust
1A Whitley Close
Cheshire, CW10 0NQ
8301 Professional Place
Landover, MD 20785
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Mitochondrial Disease Support Group Online
5022 Michigan Avenue
West Palm Beach, FL 33415
Vereniging voor Kinder met Stofwisselingsziekten
P.O. Box 664
Zwolle, 8000 AR
Children's Mitochondrial Disease Network
30 Heber Walk
Northwich, Intl CW9 5JB
Tel: 44 0 1606 43946
Fax: 44 0 1606 43946
PO Box 241956
Los Angeles, CA 90024
14 Pembroke Street
Medford, MA 02155
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 9/30/2010
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