Arabic Bulgarian Chinese Croatian Czech Danish Dutch English Estonian Finnish French German Greek Hebrew Hindi Hungarian Icelandic Indonesian Italian Japanese Korean Latvian Lithuanian Malagasy Norwegian Persian Polish Portuguese Romanian Russian Serbian Slovak Slovenian Spanish Swedish Thai Turkish Vietnamese
Arabic Bulgarian Chinese Croatian Czech Danish Dutch English Estonian Finnish French German Greek Hebrew Hindi Hungarian Icelandic Indonesian Italian Japanese Korean Latvian Lithuanian Malagasy Norwegian Persian Polish Portuguese Romanian Russian Serbian Slovak Slovenian Spanish Swedish Thai Turkish Vietnamese

definitions - Leigh's_disease

Leigh's Disease (n.)

1.(MeSH)A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

   Advertizing ▼

definition (more)

definition of Wikipedia

synonyms - Leigh's_disease

   Advertizing ▼

analogical dictionary

Leigh's Disease (n.) [MeSH]


Leigh's disease

Leigh's disease
Classification and external resources
ICD-10 G31.8
ICD-9 330.8
OMIM 256000
DiseasesDB 30792
MeSH D007888

Leigh's disease, also known as Subacute Necrotizing Encephalomyelopathy (SNEM), is a rare neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh (1916-1998), a British psychiatrist who first described the condition in 1951.[1]



  Two healthy mitochondria from mammalian lung tissue as shown by electron microscopy.

It is an inherited disorder that usually affects infants between the age of three months and two years, but, in rare cases, teenagers and adults as well. In the case of the disease, mutations in mitochondrial DNA (mtDNA) or in nuclear DNA (gene SURF1[2] and some COX assembly factors) cause degradation of motor skills and eventually death.

Mitochondria are an essential organelle in eukaryotic cells. Their function is to convert the potential energy of glucose, amino acids, and fatty acids into adenosine triphosphate (ATP). Mitochondria carry their own DNA, called mitochondrial DNA [mtDNA]. The information stored in the mtDNA is used to produce several of the enzymes essential to the production of ATP.

Mutations in the mtDNA can cause mitochondria to fail or to function improperly. In the case of Leigh's disease, crucial cells in the brain stem have mutated mtDNA, creating poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which, in turn, affects the central nervous system and inhibits motor functions.

  Signs and Symptoms

The disease is characterized by movement disorders. In one case review, 22 of 34 patients had evidence of a movement disorder. Dystonia, occurring in 19 patients, was the most common movement disorder. The dystonia was usually multifocal at onset and showed progression in six patients. Rigidity, tremor, chorea, hypokinesia, myoclonus, and tics were also noted (Macaya et al.). As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, kidney failure, and heart problems. Life expectancy is usually about a year within the onset of symptoms although both acute fulminating illness of a few days and prolonged survival have been reported.


Leigh's disease is an extremely rare disorder. There is currently an effective treatment. A high-fat, low-carbohydrate diet may be recommended. Adults may have puffiness or swelling of the eye area and the hands. It is currently treated with thiamin (vitamin B1), but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.

  X-linked Leigh's disease

There is another form of this disease called the X-linked Leigh's syndrome (OMIM 308930), which is a mutation in the stomache oxidative phosphorylation enzymes (which, unfortunately, are on both the mtDNA and the nuclear DNA). The X-linked Leigh's disease is a mutation of a gene encoding PDHA1, part of the pyruvate dehydrogenase complex, located on the X chromosome.[3]


4. Macaya A, Munell F, Burke RE, De Vivo DC. Disorders of movement in Leigh syndrome. Neuropediatrics 1993;4(2):60-7.

  External links



All translations of Leigh's_disease

sensagent's content

  • definitions
  • synonyms
  • antonyms
  • encyclopedia

Dictionary and translator for handheld

⇨ New : sensagent is now available on your handheld

   Advertising ▼

sensagent's office

Shortkey or widget. Free.

Windows Shortkey: sensagent. Free.

Vista Widget : sensagent. Free.

Webmaster Solution


A windows (pop-into) of information (full-content of Sensagent) triggered by double-clicking any word on your webpage. Give contextual explanation and translation from your sites !

Try here  or   get the code


With a SensagentBox, visitors to your site can access reliable information on over 5 million pages provided by Sensagent.com. Choose the design that fits your site.

Business solution

Improve your site content

Add new content to your site from Sensagent by XML.

Crawl products or adds

Get XML access to reach the best products.

Index images and define metadata

Get XML access to fix the meaning of your metadata.

Please, email us to describe your idea.


The English word games are:
○   Anagrams
○   Wildcard, crossword
○   Lettris
○   Boggle.


Lettris is a curious tetris-clone game where all the bricks have the same square shape but different content. Each square carries a letter. To make squares disappear and save space for other squares you have to assemble English words (left, right, up, down) from the falling squares.


Boggle gives you 3 minutes to find as many words (3 letters or more) as you can in a grid of 16 letters. You can also try the grid of 16 letters. Letters must be adjacent and longer words score better. See if you can get into the grid Hall of Fame !

English dictionary
Main references

Most English definitions are provided by WordNet .
English thesaurus is mainly derived from The Integral Dictionary (TID).
English Encyclopedia is licensed by Wikipedia (GNU).


The wordgames anagrams, crossword, Lettris and Boggle are provided by Memodata.
The web service Alexandria is granted from Memodata for the Ebay search.
The SensagentBox are offered by sensAgent.


Change the target language to find translations.
Tips: browse the semantic fields (see From ideas to words) in two languages to learn more.

last searches on the dictionary :

5228 online visitors

computed in 0.062s

I would like to report:
section :
a spelling or a grammatical mistake
an offensive content(racist, pornographic, injurious, etc.)
a copyright violation
an error
a missing statement
please precise:



Company informations

My account



   Advertising ▼