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MELAS Syndrome

Important
It is possible that the main title of the report MELAS Syndromeis not the name you expected.

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
info@climb.org.uk
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
info@umdf.org
http://www.umdf.org

Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire
CW10 0NQ
United Kingdom
Tel: 0160683719
Fax: 01606837198Epilepsy Foundation
4351 Garden City Drive
Landover
MD
20785
Tel: (301)459-3700
Fax: (301)577-2684
800: (800)332-1000
TDD: (800)332-2070
postmaster@efa.org
http://www.epilepsyfoundation.org

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson
AZ
85718
USA
Tel: (520)529-2000
Fax: (520)529-5300
800: (800)344-4863
mda@mdausa.org
http://www.mdausa.org

Johns, Donald R., M.D.
Johns Hopkins Hospital
600 North Wolfe Street
Baltimore
MD
21205National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

Mitochondrial Support Group
5022 Michigan Avenue
West Palm Beach
FL
33415
Tel: (407)641-4712Vereniging voor Kinder met Stofwisselingsziekten
P.O. Box 664
Zwolle
8000 AR
The Netherlands
Tel: 31384661497
Fax: 31384661497
vks@worldonline.nl
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
info_cmdn@btopenworld.com
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: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

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, 2001 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 07, 2008

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.