Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MERRF Syndrome


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
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Children's European Mitochondrial Disease Network
      Mayfield House
      Northwich Intl CW9 5JB
      Phone #: 44 -0 1-606 43946
      800 #: --
      e-mail: info_cmdn@btopenworld.com
      Home page: http://www.cmdn-mitonet.co.uk
    • Epilepsy Foundation
      4351 Garden City Drive
      Landover MD 20785
      Phone #: 301-459-3700
      800 #: 800-332-1000
      e-mail: postmaster@efa.org
      Home page: http://www.epilepsyfoundation.org
    • Johns, Donald R., M.D.
      Johns Hopkins Hospital
      Baltimore MD 21205
      Phone #: --
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Lactic Acidosis Support Trust
      1A Whitley Close
      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 Support Group
      5022 Michigan Avenue
      West Palm Beach FL 33415
      Phone #: 407-641-4712
      800 #: --
      e-mail: N/A
      Home page: N/A
    • 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)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • United Mitochondrial Disease Foundation
      8085 Saltsburg Road
      Pittsburgh PA 15239
      Phone #: 412-793-8077
      800 #: --
      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



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html