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: email@example.com 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: firstname.lastname@example.org 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: email@example.com 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: firstname.lastname@example.org Internet: http://www.mitosupport.org/
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Children's Mitochondrial Disease Network Mayfield House 30 Heber Walk Chester Way Northwich England, CW9 5JB United Kingdom Tel: 440160643946 Fax: 440160643946 Email: firstname.lastname@example.org 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: email@example.com Internet: http://www.madisonsfoundation.org
MitoAction 14 Pembroke Street Medford, MA 02155 Tel: (888)648-6228 Fax: (888)648-6228 Email: firstname.lastname@example.org Internet: http://www.MitoAction.org
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