Important 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.
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).
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: firstname.lastname@example.org Internet: http://www.CLIMB.org.uk
United Mitochondrial Disease Foundation 8085 Saltsburg Road Suite 201 Pittsburgh, PA 15239 United States Tel: (412)793-8077 Fax: (412)793-6477 Tel: (888)317-8633 Email: email@example.com Internet: http://www.umdf.org
Lactic Acidosis Support Trust 1A Whitley Close Middlewich Cheshire, CW10 0NQ United Kingdom Tel: 0160683719 Fax: 01606837198
Epilepsy Foundation 8301 Professional Place Landover, MD 20785-7223 Tel: (866)330-2718 Fax: (877)687-4878 Tel: (800)332-1000 TDD: (800)332-2070 Email: ContactUs@efa.org Internet: http://www.epilepsyfoundation.org
Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 USA Tel: (520)529-2000 Fax: (520)529-5300 Tel: (800)572-1717 Email: firstname.lastname@example.org Internet: http://www.mda.org/
NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: http://www.ninds.nih.gov/
Mitochondrial Disease Support Group Online 5022 Michigan Avenue West Palm Beach, FL 33415 Tel: (407)641-4712 Email: email@example.com Internet: http://www.mitosupport.org/
Vereniging voor Kinder met Stofwisselingsziekten P.O. Box 664 Bloemendalstraat 11 Zwolle, 8000 AR The Netherlands Tel: 0384201764 Fax: 0384201447 Email: firstname.lastname@example.org Internet: http://www.stofwisselingsziekten.nl
Children's Mitochondrial Disease Network Mayfield House 30 Heber Walk Chester Way Northwich England, CW9 5JB United Kingdom Tel: 440160643946 Fax: 440160643946 Email: email@example.com Internet: http://www.emdn-mitonet.co.uk/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
MitoAction 14 Pembroke Street Medford, MA 02155 Tel: (888)648-6228 Fax: (888)648-6228 Email: email@example.com Internet: http://www.MitoAction.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 9/30/2010 Copyright 1993, 1996, 1998, 1999, 2000, 2001, 2010 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.