Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central...
28 KB (3,180 words) - 12:33, 1 November 2024
MT-ATP6 (section Leigh syndrome)
gene have been found in approximately 10 to 20 percent of people with Leigh syndrome. The MT-ATP6 gene provides information for making a protein that is...
24 KB (3,097 words) - 07:09, 15 April 2024
Formylation (section Leigh syndrome)
resistance. Leigh syndrome is a neurodegenerative disorder that has been linked to a defect in an enzymatic formylation reaction. Leigh syndrome is typically...
25 KB (2,838 words) - 17:20, 5 October 2024
Restless legs syndrome (RLS), (also known as Willis–Ekbom disease (WED), is a neurological disorder, usually chronic, that causes an overwhelming urge...
79 KB (8,368 words) - 18:46, 18 November 2024
in 50,000 people); visual loss typically begins in young adulthood Leigh syndrome, subacute necrotizing encephalomyelopathy after normal development the...
32 KB (3,477 words) - 18:55, 16 November 2024
encephalopathy. They are also used to treat maple syrup urine disease and Leigh syndrome. Supplements and medications are typically taken by mouth, but may also...
58 KB (5,764 words) - 04:05, 22 October 2024
SERAC1 (section Leigh syndrome)
of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other...
10 KB (1,265 words) - 23:01, 3 January 2024
genetic testing should be considered to distinguish the two conditions. Leigh syndrome may also present with progressive neurological deterioration, seizures...
17 KB (1,797 words) - 22:06, 11 October 2024
Leigh syndrome, French Canadian type, also known as congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, is a rare mitochondrial disorder which is...
5 KB (561 words) - 04:06, 23 April 2023
Neuropathy, ataxia, and retinitis pigmentosa (redirect from NARP syndrome)
vary with the type of mutation involved. Leigh's disease "Maternally inherited Leigh syndrome and NARP syndrome". rarediseases.org. NORD's Rare Disease...
10 KB (1,035 words) - 11:41, 18 August 2023
happens in some genetic mitochondrial diseases, such as Leigh syndrome, and Melas syndrome, and degradation can lead to pathological conditions, such...
47 KB (4,543 words) - 03:44, 25 October 2024
SURF1 (section Leigh syndrome)
cytochrome c oxidase assembly. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic...
20 KB (2,402 words) - 15:25, 2 November 2024
episodes Pyruvate dehydrogenase deficiency Pyruvate carboxylase deficiency Leigh syndrome Drugs Linezolid Paracetamol/acetaminophen poisoning Metformin: this...
25 KB (2,823 words) - 18:29, 19 November 2024
encephalomyelitis, rabies encephalopathy, toxic leukoencephalopathy and Leigh syndrome. Kuruvilla, A.; Joseph, S. (2000). "'Face of the giant panda' sign in...
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Legionnaires' disease Lehman syndrome Leichtman–Wood–Rohn syndrome Leifer–Lai–Buyse syndrome Leigh disease Leigh syndrome, French Canadian type Leiner...
10 KB (900 words) - 15:15, 1 April 2022
encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh's syndrome (LS), Leber's hereditary optic neuropathy (LHON) and increases in adult...
17 KB (2,025 words) - 14:21, 3 December 2023
Lambert–Eaton myasthenic syndrome, may also mimic ALS, although this rarely presents diagnostic difficulty over time. Benign fasciculation syndrome and cramp fasciculation...
130 KB (14,045 words) - 02:18, 19 November 2024
Lewy bodies can be classified in other ways. The atypical parkinsonian syndromes include DLB, along with other conditions. Also, DLB is a synucleinopathy...
136 KB (14,528 words) - 03:14, 16 November 2024
Hirayama disease (redirect from O'Sullivan-McLeod syndrome)
that call for very different treatments, such as advanced carpal tunnel syndrome (CTS). Symptoms somewhat differ. Pain and tingling in the hand is typically...
19 KB (2,254 words) - 09:12, 19 July 2024
c oxidase deficiencies (often the cause of degenerative Leigh syndrome) Ehlers–Danlos syndrome Fibrodysplasia ossificans progressiva Friedreich's ataxia...
16 KB (1,643 words) - 13:32, 29 July 2024
MT-TK (section Leigh syndrome)
8296A>G has been found to cause the syndrome. The 8344A>G mutation in the MT-TK gene may also result in Leigh syndrome, a progressive brain disorder. Clinical...
11 KB (1,373 words) - 07:16, 2 September 2023
insight that they have lost vision, a phenomenon known as Anton–Babinski syndrome. Cortical blindness and cortical visual impairment (CVI), which refers...
11 KB (1,244 words) - 02:00, 24 September 2024
Horner's syndrome, also known as oculosympathetic paresis, is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk...
14 KB (1,536 words) - 00:18, 21 August 2024
developed shitlife syndrome?". The Irish Times. Retrieved 5 April 2019. Kinney, Fergal (2 November 2018). "Shit Life Syndrome: Mike Leigh Beyond The Hits"...
5 KB (626 words) - 07:01, 26 August 2024
genetic-neurological trait called Leigh syndrome, Zhang used the spindle transfer technique in 2015. Leigh syndrome in the mother is due to mutations...
15 KB (1,539 words) - 05:16, 8 September 2023
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...
12 KB (1,169 words) - 08:37, 18 November 2024
ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome". The British Journal of Ophthalmology. 50 (7): 414–420. doi:10.1136/bjo...
58 KB (6,401 words) - 02:47, 22 September 2024
gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome. The NDUFAF6 gene is located on the q arm of chromosome...
6 KB (796 words) - 06:06, 27 March 2022
encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh's syndrome (LS), Leber's hereditary optic neuropathy (LHON) and increases in adult...
14 KB (1,746 words) - 06:59, 3 December 2023
syndrome Breast cancer chorioretinal degeneration Diabetes mellitus type II Ewing's sarcoma Familial hypercholesterolemia Hemophilia Leigh syndrome...
27 KB (3,083 words) - 18:43, 8 June 2024