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Copyright 1993, 1996, 1998, 1999, 2000, 2001
Synonyms of MERRF Syndrome
- Fukuhara Syndrome
- MERRF
- Myoclonus Epilepsy Associated with Ragged Red Fibers
- Myoencephalopathy Ragged-Red Fiber Disease
Disorder Subdivisions
General Discussion
MERRF syndrome (Myoclonus Epilepsy Associated with Ragged-Red Fibers) is one of a group of rare muscular disorders that are called mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in the genetic material arises from a part of the cell structure that releases energy (mitochondria). This can cause a dysfunction of the brain and muscles (encephalomyopathies). The mitochondrial defect as well as "ragged-red fibers" (an abnormality of tissue when viewed under a microscope) are always present. The most characteristic symptom of MERRF syndrome is myoclonic seizures that are usually sudden, brief, jerking, spasms that can affect the limbs or the entire body. Impairment of the ability to coordinate movements (ataxia), as well as an abnormal accumulation of lactic acid in the blood (lactic acidosis) may also be present in affected individuals. Difficulty speaking (dysarthria), optic atrophy, short stature, hearing loss, dementia, and involuntary jerking of the eyes (nystagmus) may also occur.
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Organizations related to MERRF Syndrome
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Children's European Mitochondrial Disease Network
Mayfield House
30 Heber Walk
Chester Way
Northwich Intl CW9 5JB
Phone #: 44 -0 1-606 43946
800 #: --
e-mail: info@cmdn.org.uk
Home page: http://www.emdn-mitonet.co.uk/
- Epilepsy Foundation
8301 Professional Place
Landover MD 20785
Phone #: 301-459-3700
800 #: 800-332-1000
e-mail: info@efa.org
Home page: http://www.epilepsyfoundation.org
- Johns, Donald R., M.D.
Johns Hopkins Hospital
600 North Wolfe Street
Baltimore MD 21205
Phone #: --
800 #: --
e-mail: N/A
Home page: N/A
- Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire None CW10 0NQ
Phone #: 016-068-3719
800 #: --
e-mail: N/A
Home page: N/A
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- Mitochondrial Disease Support Group Online
5022 Michigan Avenue
West Palm Beach FL 33415
Phone #: 407-641-4712
800 #: --
e-mail: madmolmom@gmail.com
Home page: http://mitosupport.org/
- Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-344-4863
e-mail: mda@mdausa.org
Home page: http://www.mdausa.org
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- United Mitochondrial Disease Foundation (UMDF)
8085 Saltsburg Road
Suite 201
Pittsburgh PA 15239
Phone #: 412-793-8077
800 #: 888-317-8633
e-mail: info@umdf.org
Home page: http://www.umdf.org
- Vereniging voor Kinder met Stofwisselingsziekten
P.O. Box 664
Zwolle None 8000 AR
Phone #: 313-846-61497
800 #: --
e-mail: vks@worldonline.nl
Home page: http://www.worldonline.nl/~vks
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