Synonyms

• Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod
• Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Disorder Subdivisions

• None

General Discussion

MELAS syndrome is one of a group of rare muscular disorders that are called mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria) resulting in disease of the brain and muscles (encephalomyopathies). This mitochondrial defect and a condition known as "ragged red fibers" (an abnormality of muscle tissue when viewed under a microscope) are typically present. The most characteristic symptom of MELAS syndrome is recurring, stroke-like episodes in which sudden headaches are followed by vomiting and seizures. Short stature, an accumulation of lactic acid in the blood (lactic acidosis), and muscular weakness on one side of the body (hemiparesis) are typically present. Visual symptoms may include impaired vision or blindness in one half of the visual field (hemianopsia) and/or blindness due to lesions in the area of the brain concerned with vision (cortical blindness). Although the exact cause of MELAS syndrome is not fully understood, it has been found to run in families (familial).
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

United Mitochondrial Disease Foundation
8085 Saltsburg Road
Suite 201
Pittsburgh, PA 15239
United States
Tel: 4127938077
Fax: 4127936477
Email: info@umdf.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
4351 Garden City Drive
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: postmaster@efa.org
Internet: http://www.epilepsyfoundation.org

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
USA
Tel: 5205292000
Fax: 5205295300
Tel: 8003444863
Email: mda@mdausa.org
Internet: http://www.mdausa.org

Johns, Donald R., M.D.
Johns Hopkins Hospital
600 North Wolfe Street
Baltimore, MD 21205

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Mitochondrial Support Group
5022 Michigan Avenue
West Palm Beach, FL 33415
Tel: (407)641-4712

Vereniging voor Kinder met Stofwisselingsziekten
P.O. Box 664
Zwolle, 8000 AR
The Netherlands
Tel: 31384661497
Fax: 31384661497
Email: vks@worldonline.nl
Internet: http://www.worldonline.nl/~vks

Children's European Mitochondrial Disease Network
Mayfield House
30 Heber Walk
Chester Way
Northwich, Intl CW9 5JB
United Kingdom
Tel: 44 0 1606 43946
Fax: 44 0 1606 43946
Email: info_cmdn@btopenworld.com
Internet: http://www.cmdn-mitonet.co.uk

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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

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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 orphan@rarediseases.org

Last Updated:  4/7/2008
Copyright  1993, 1998, 1999, 2000, 2001National Organization for Rare Disorders, Inc.