Detection of numerous ragged red fibers in a muscle biopsy
Specialty
Neurology
Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951.[2] Normal levels of thiamine, thiamine monophosphate, and thiamine diphosphate are commonly found, but there is a reduced or absent level of thiamine triphosphate. This is thought to be caused by a blockage in the enzyme thiamine-diphosphate kinase, and therefore treatment in some patients would be to take thiamine triphosphate daily.[3][4] While the majority of patients typically exhibit symptoms between the ages of 3 and 12 months, instances of adult onset have also been documented.[5]
^Cite error: The named reference GHR was invoked but never defined (see the help page).
^Murphy, Jerome V (1974). "Leigh Disease: Biochemical Characteristics of the Inhibitor". Archives of Neurology. 31 (4): 220–7. doi:10.1001/archneur.1974.00490400034002.
^Murphy, J. V; Craig, L (1975). "Leigh's disease: Significance of the biochemical changes in brain". Journal of Neurology, Neurosurgery, and Psychiatry. 38 (11): 1100–3. doi:10.1136/jnnp.38.11.1100. PMC 492163. PMID 1206418.
^Gerards, Mike; Sallevelt, Suzanne C.E.H.; Smeets, Hubert J.M. (March 2016). "Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options". Molecular Genetics and Metabolism. 117 (3): 300–312. doi:10.1016/j.ymgme.2015.12.004. ISSN 1096-7192. PMID 26725255.
Leighsyndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central...
cytochrome c oxidase assembly. Defects in this gene are a cause of Leighsyndrome, a severe neurological disorder that is commonly associated with systemic...
resistance. Leighsyndrome is a neurodegenerative disorder that has been linked to a defect in an enzymatic formylation reaction. Leighsyndrome is typically...
of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other...
encephalopathy. They are also used to treat maple syrup urine disease and Leighsyndrome. Supplements and medications are typically taken by mouth, but may also...
Restless legs syndrome (RLS), also known as Willis–Ekbom disease (WED), is generally a long-term disorder that causes a strong urge to move one's legs...
in 50,000 people); visual loss typically begins in young adulthood Leighsyndrome, subacute necrotizing encephalomyelopathy after normal development the...
happens in some genetic mitochondrial diseases, such as Leighsyndrome, and Melas syndrome, and degradation can lead to pathological conditions, such...
encephalomyelitis, rabies encephalopathy, toxic leukoencephalopathy and Leighsyndrome. Kuruvilla, A.; Joseph, S. (2000). "'Face of the giant panda' sign in...
genetic testing should be considered to distinguish the two conditions. Leighsyndrome may also present with progressive neurological deterioration, seizures...
c oxidase deficiencies (often the cause of degenerative Leighsyndrome) Ehlers–Danlos syndrome Fibrodysplasia ossificans progressiva Friedreich's ataxia...
Lambert–Eaton myasthenic syndrome, may also mimic ALS, although this rarely presents diagnostic difficulty over time. Benign fasciculation syndrome and cramp fasciculation...
XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome is...
Lewy bodies can be classified in other ways. The atypical parkinsonian syndromes include DLB, along with other conditions. Also, DLB is a synucleinopathy...
developed shitlife syndrome?". The Irish Times. Retrieved 5 April 2019. Kinney, Fergal (2 November 2018). "Shit Life Syndrome: Mike Leigh Beyond The Hits"...
with a form of mitochondrial respiratory chain deficiency known as LeighSyndrome. A pseudogene has been identified on chromosome 3q29. Alternatively...
insight that they have lost vision, a phenomenon known as Anton–Babinski syndrome. Cortical blindness and cortical visual impairment (CVI), which refers...
inherited. Examples of diseases in humans caused by these mutations include Leighsyndrome, deafness, neurological disorders, and various cardiomyopathies. In...
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