Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Mitochondrial DNA-associated Leigh syndrome


Other Names for this Disease
  • MILS
  • Leigh disease, maternally inherited
  • Subacute necrotizing encephalomyelopathy maternally inherited
  • Maternally inherited Leigh syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood.[1] Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome.[2] This condition has an inheritance pattern known as maternal or mitochondrial inheritance.[2][3] Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.
Last updated: 1/27/2016

References

  1. MT-ATP6. Genetics Home Reference. October 2011; http://ghr.nlm.nih.gov/gene/MT-ATP6.
  2. Thornburn DR, Rahman SR. Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews. April 17, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1173/.
  3. Neuropathy, ataxia, and retinitis pigmentosa. Genetics Home Reference. November 2006; http://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Neuromuscular Disease Center at Washington University provides information about Leigh syndrome.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mitochondrial DNA-associated Leigh syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • MILS
  • Leigh disease, maternally inherited
  • Subacute necrotizing encephalomyelopathy maternally inherited
  • Maternally inherited Leigh syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.