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Pretzel syndrome: Difference between revisions
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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 | 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>[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125/ | <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> | 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> | ||
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==Links== | ==Links== | ||
[https://rarediseases.info.nih.gov/diseases/12913/polyhydramnios-megalencephaly-and-symptomatic-epilepsy-syndrome Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome] | [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
