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Pretzel syndrome: Difference between revisions
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Pretzel syndrome is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs | Pretzel syndrome or [[PMSE]] is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs | ||
<ref | <ref>[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125/ Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder]</ref> | ||
Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder]</ref> | |||
Due to the peculiar positioning of the legs due to the muscular hypotonia in combination with connective tissue problems, children with mutations in the STRADA/[[LYK5]] gene can twist themselves into a pretzel-like configuration.<ref>[http://epilepsygenetics.net/2013/05/03/strada-mutations-mtor-activation-and-personalized-medicine-using-rapamycin/]</ref> | |||
==Treatment== | |||
<ref>http://search.proquest.com/openview/c03b6627d94eb71e741206889933794f/1.pdf?pq-origsite=gscholar&cbl=33975</ref> | |||
<ref>http://www.mdedge.com/neurologyreviews/article/73249/epilepsy-seizures/rapamycin-shows-promise-treating-seizure-disorders</ref> | |||
==See also== | |||
[[Crigler Najjar syndrome]] | |||
<ref>https://karmel.miraheze.org/wiki/Archivo:GeneticCharacterization.pdf</ref> | |||
==Links== | |||
[https://rarediseases.info.nih.gov/diseases/12913/polyhydramnios-megalencephaly-and-symptomatic-epilepsy-syndrome Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome] | |||
{{Wikidata|Q17143464}} | {{Wikidata|Q17143464}} | ||
{{refs}} | |||
Latest revision as of 14:49, 5 July 2019
Pretzel syndrome or PMSE is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs [1]
Due to the peculiar positioning of the legs due to the muscular hypotonia in combination with connective tissue problems, children with mutations in the STRADA/LYK5 gene can twist themselves into a pretzel-like configuration.[2]
Treatment
See also
Links
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
