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• W196601036 abstract "Clinical characteristics POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called chronic progressive external ophthalmoplegia plus, or CPEO+). Diagnosis/testing Establishing the diagnosis of a POLG-related disorder relies on clinical findings and identification of biallelic POLG pathogenic variants for all phenotypes except adPEO, for which identification of a heterozygous POLG pathogenic variant is diagnostic. Management Treatment of manifestations: Clinical management is largely supportive and involves conventional approaches for associated complications including occupational, physical, and speech therapy; nutritional interventions; and standard respiratory support, treatment for liver failure and disorders of arousal and sleep, and management of seizures and movement disorders. Prevention of secondary complications: Dose reductions of medications metabolized by hepatic enzymes to avoid toxicity. Surveillance: Evaluations by a multidisciplinary team of health care providers based on clinical findings; monitoring of liver enzymes every two to four weeks after introduction of any new anticonvulsant. Agents/circumstances to avoid: Valproic acid (Depakene®) and sodium divalproate (divalproex) (Depakote®) because of the risk of precipitating and/or accelerating liver disease. Genetic counseling The POLG-related disorders in the spectrum of AHS, MCHS, MEMSA, ANS, and arPEO are inherited in an autosomal recessive manner. Autosomal dominant PEO (adPEO) is inherited in an autosomal dominant manner. For autosomal recessive phenotypes: heterozygotes (carriers) are generally believed to be asymptomatic; the offspring of carrier parents have a 25% chance of being affected, a 50% chance of being carriers, and a 25% chance of being unaffected and not carriers; carrier testing for at-risk family members is possible if the pathogenic variants in the family are known. For the autosomal dominant phenotype: most affected individuals have an affected parent; each child of an affected individual has a 50% chance of inheriting the pathogenic variant. For pregnancies at increased risk for all phenotypes, prenatal diagnosis is possible if the pathogenic variant(s) in the family are known." @default.
• W196601036 created "2016-06-24" @default.
• W196601036 creator A5007233218 @default.
• W196601036 creator A5018238846 @default.
• W196601036 creator A5078312670 @default.
• W196601036 date "2014-12-18" @default.
• W196601036 modified "2023-09-24" @default.
• W196601036 title "POLG-Related Disorders" @default.
• W196601036 cites W144486917 @default.
• W196601036 cites W1535907462 @default.
• W196601036 cites W1551996591 @default.
• W196601036 cites W1576093526 @default.
• W196601036 cites W1665535554 @default.
• W196601036 cites W1950597883 @default.
• W196601036 cites W1964229860 @default.
• W196601036 cites W1966066662 @default.
• W196601036 cites W1966206826 @default.
• W196601036 cites W1966746859 @default.
• W196601036 cites W1970879692 @default.
• W196601036 cites W1982872088 @default.
• W196601036 cites W1983386499 @default.
• W196601036 cites W1983477855 @default.
• W196601036 cites W1993103503 @default.
• W196601036 cites W1993747322 @default.
• W196601036 cites W1994117309 @default.
• W196601036 cites W1997623639 @default.
• W196601036 cites W1998251890 @default.
• W196601036 cites W2003594740 @default.
• W196601036 cites W2003694944 @default.
• W196601036 cites W2005456306 @default.
• W196601036 cites W2005567875 @default.
• W196601036 cites W2006242565 @default.
• W196601036 cites W2009361320 @default.
• W196601036 cites W2012967220 @default.
• W196601036 cites W2015762546 @default.
• W196601036 cites W2015802342 @default.
• W196601036 cites W2016352453 @default.
• W196601036 cites W2017467735 @default.
• W196601036 cites W2018728641 @default.
• W196601036 cites W2026779731 @default.
• W196601036 cites W2028135570 @default.
• W196601036 cites W2028686028 @default.
• W196601036 cites W2029386258 @default.
• W196601036 cites W2029707526 @default.
• W196601036 cites W2030386915 @default.
• W196601036 cites W2030833218 @default.
• W196601036 cites W2031556226 @default.
• W196601036 cites W2031723973 @default.
• W196601036 cites W2031782684 @default.
• W196601036 cites W2036069552 @default.
• W196601036 cites W2038833748 @default.
• W196601036 cites W2038851833 @default.
• W196601036 cites W2043458433 @default.
• W196601036 cites W2045199120 @default.
• W196601036 cites W2047092373 @default.
• W196601036 cites W2047251098 @default.
• W196601036 cites W2048083799 @default.
• W196601036 cites W2048544820 @default.
• W196601036 cites W2049353085 @default.
• W196601036 cites W2050475204 @default.
• W196601036 cites W2050510668 @default.
• W196601036 cites W2050868298 @default.
• W196601036 cites W2053244885 @default.
• W196601036 cites W2055513768 @default.
• W196601036 cites W2056011043 @default.
• W196601036 cites W2059282884 @default.
• W196601036 cites W2059644202 @default.
• W196601036 cites W2059941706 @default.
• W196601036 cites W2060061148 @default.
• W196601036 cites W2063874785 @default.
• W196601036 cites W2067906362 @default.
• W196601036 cites W2068354638 @default.
• W196601036 cites W2068391952 @default.
• W196601036 cites W2068456988 @default.
• W196601036 cites W2071116588 @default.
• W196601036 cites W2072714570 @default.
• W196601036 cites W2074317467 @default.
• W196601036 cites W2075878462 @default.
• W196601036 cites W2076224048 @default.
• W196601036 cites W2079092178 @default.
• W196601036 cites W2081366644 @default.
• W196601036 cites W2083442154 @default.
• W196601036 cites W2083969161 @default.
• W196601036 cites W2085752695 @default.
• W196601036 cites W2085820361 @default.
• W196601036 cites W2089612936 @default.
• W196601036 cites W2090076903 @default.
• W196601036 cites W2091701724 @default.
• W196601036 cites W2098568090 @default.
• W196601036 cites W2102519012 @default.
• W196601036 cites W2105911051 @default.
• W196601036 cites W2107559330 @default.
• W196601036 cites W2108197952 @default.
• W196601036 cites W2109942343 @default.
• W196601036 cites W2117459410 @default.
• W196601036 cites W2118321705 @default.
• W196601036 cites W2120695551 @default.
• W196601036 cites W2125181051 @default.
• W196601036 cites W2125913729 @default.
• W196601036 cites W2127433925 @default.

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