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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Merrf syndrome
  • MERRF
  • Myoclonic epilepsy associated with ragged-red fibers
  • Fukuhara syndrome
  • Myoencephalopathy ragged-red fiber disease
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Myoclonus with epilepsy with ragged red fibers
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MERRF is a disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia.  Symptoms usually first appear in childhood after normal early development but symptoms can also first occur in adulthood.  Symptoms vary widely from individual to individual and the course may be slowly progressive or rapidly downhill.  Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome.   The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF) [2].  The condition is caused by mutations - that can be detected with genetic testing in 90% of affected individuals - in the mitochondrial gene called MT-TK.  The seizure disorder is treated with conventional anticonvulsant therapy.  Coenzyme Q10 and L-carnitine are often used in hopes of improving mitochondrial function.[1]


References
  1. DiMauro, S. and Hirano, M. MERRF. GeneReviews. September 27, 2005 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=merrf. Accessed June 16, 2008.
  2. Seidman, Roberta. eMedicine. Muscle Biopsy and the Pathology of Skeletal Muscle. Nov 2, 2006 Available at: http://www.emedicine.com/neuro/topic230.htm. Accessed June 16, 2008.
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Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Myoclonus with epilepsy with ragged red fibers click on the boxes below:
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 General | Management Guidelines
More Detailed Information (Found 4 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Myoclonus with epilepsy with ragged red fibers. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Myoclonus with epilepsy with ragged red fibers. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites
Organizations (Found 9 resources)
Groups providing a wide range of services, supportive resources, and information.

  • Disease-Specific Organizations

    • Mitochondria Research Society
      Keshav K. Singh, Ph.D.
      Professor of Oncology
      Editor-in-Chief, Mitochondrion
      Department of Cancer Genetics
      Roswell Park Cancer Institute
      BLSC Building, Room # 3-316
      Elm and Carlton Streets
      Buffalo, NY, 14263
      Telephone: 716-907-4349
      Fax: 716-845-1047
      E-mail: keshav@mitoresearch.org
      Web site: http://www.mitoresearch.org
    • United Mitochondrial Disease Foundation
      8085 Saltsburg Road, Suite 201
      Pittsburg PA 15239
      Toll-free: 1-888-317-8633
      Telephone: 412-793-8077
      Fax: 412-793-6477
      E-mail: info@umdf.org
      Web site: http://www.umdf.org
  • Umbrella Organizations

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
 Ask-an-Expert | Testing | Parent Resources
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Ask-an-Expert

    • You can submit a question to Ask the Mito DocSM , a service of the United Mitochondrial Diseases Foundation. Information contained in Ask the Mito DocSM is for informational and educational purposes only.
  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 Upcoming Conferences | Past Conferences
Scientific Conferences (Found 5 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

    • Mitochondrial Physiology and Medicine, September 7, 2011 - September 11, 2011
      Location: Marine Biological Laboratory, Woods Hole, MA
      Description: An incredibly enriched and ambitious program has been developed including a speaker list that represents a veritable “Who’s Who” in mitochondrial research plus two internationally-acclaimed leaders in mitochondrial research and disease as keynote speakers: Drs. D. Clapham and D. Wallace, both members of National Academy of Sciences. The symposium will focus on 5 overarching themes: (1) mitochondrial morphology, movement, and dynamics, (2) mitochondrial systems biology, (3) mitochondrial ion channels and transporters, (4) mitochondrial communication and signaling, and (5) mitochondria in cell death and disease. These topics represent an integration of mitochondrial physiology and medicine from molecular to human levels with a special emphasis on the role of mitochondria as agents and therapeutic targets in combating disease. We expect that this conference will attract approximately 150-200 basic and clinical scientists across all career stages working at the cutting edge of mitochondrial research. The Society of General Physiologists and the members of organization committee are poised to ensure the success of this symposium. It is our aim that through open dialogue and communication, new and important ideas and novel therapies will emerge as a direct result of this timely meeting.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • United Mitochondrial Disease Foundation Annual Symposium , June 24, 2009 - June 27, 2009
      Description: The objectives of this symposium were to (1) describe the latest findings regarding mitochondrial diseases; (2) share research findings and award new research grants; (3) explore the clinical manifestations of mitochondrial disorders, including diagnosis and treatment considerations, and understand the concepts of mitochondrial disease therapy; and (4) evaluate the links between mitochondrial disease and a host of more well-known diseases.
    • Workshop on Myoclonus, March 21, 1999 - March 22, 1999
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials.

    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The North American Mitochondrial Disease Consortium (NAMDC) has a registry for patients who wish to be contacted about clinical research opportunities.

      For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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