Andersen-Tawil syndrome history and symptoms: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Andersen-Tawil syndrome}} | {{Andersen-Tawil syndrome}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{VKG}} | ||
== | ==Overview== | ||
*[[ | *The most common symptoms of [[Andersen-Tawil syndrome|Andersen-Tawil Syndrome]] include periodic paralysis, ventricular arrhythmias, [[syncope]], [[muscular weakness]], developmental abnormalities, [[sudden cardiac death]] and [[Seizure|seizures]]. | ||
* | * | ||
== History and Symptoms == | == History and Symptoms == | ||
=== History === | === History === | ||
Patients with Andersen-Tawil Syndrome may have a positive history of: | Patients with [[Andersen-Tawil syndrome|Andersen-Tawil Syndrome]] may have a positive history of: | ||
* Periodic paralysis | *[[Periodic paralysis]] | ||
*Cardiac symptoms | *[[Cardiac]] symptoms | ||
* Ventricular arrhythmias | *[[Ventricular arrhythmias]] | ||
=== Common Symptoms === | === Common Symptoms === | ||
Common symptoms of Andersen-Tawil Syndrome include:<ref name="pmid12163457">{{cite journal| author=Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A | display-authors=etal| title=Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). | journal=J Clin Invest | year= 2002 | volume= 110 | issue= 3 | pages= 381-8 | pmid=12163457 | doi=10.1172/JCI15183 | pmc=151085 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12163457 }}</ref> | Common [[symptoms]] of [[Andersen-Tawil syndrome|Andersen-Tawil Syndrome]] include:<ref name="pmid12163457">{{cite journal| author=Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A | display-authors=etal| title=Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). | journal=J Clin Invest | year= 2002 | volume= 110 | issue= 3 | pages= 381-8 | pmid=12163457 | doi=10.1172/JCI15183 | pmc=151085 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12163457 }}</ref><ref name="pmid93072512">{{cite journal| author=Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S | display-authors=etal| title=Andersen's syndrome: a distinct periodic paralysis. | journal=Ann Neurol | year= 1997 | volume= 42 | issue= 3 | pages= 305-12 | pmid=9307251 | doi=10.1002/ana.410420306 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9307251 }}</ref> | ||
* Periodic paralysis which are related to hypokalemia and are spontaneous in nature | *[[Periodic paralysis]] which are related to [[hypokalemia]] and are spontaneous in nature | ||
*Ventricular arrhythmias | *[[Ventricular arrhythmias]] | ||
*Extrasystoles:Premature ventricular contraction | *[[Extrasystoles]]: [[Premature ventricular contraction]] | ||
*Arrhythmic syncope | *[[Arrhythmia|Arrhythmic]] [[syncope]] | ||
* Intermittent muscular weakness | * Intermittent [[muscular weakness]] | ||
*Skeletal developmental abnormalities | *[[Skeletal]] developmental abnormalities | ||
=== Less Common Symptoms === | === Less Common Symptoms === | ||
Less common symptoms of Andersen-Tawil Syndrome include: | Less common [[Symptom|symptoms]] of [[Andersen-Tawil syndrome|Andersen-Tawil Syndrome]] include: | ||
* SCD(sudden cardiac death) is due to sudden hemodynamic collapse | *[[SCD]]([[sudden cardiac death]]) is due to sudden hemodynamic collapse | ||
* SCA''':''' Spinocerebellar ataxia | *[[SCA]]''':''' [[Spinocerebellar ataxia]] | ||
* Generalized seizures, which are often misdiagnosed as primary seizure disorder | *[[Generalized seizure|Generalized seizures]], which are often misdiagnosed as primary [[seizure disorder]] | ||
*Learning difficulties | *[[Learning]] difficulties | ||
==References== | ==References== | ||
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{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
[[Category:Electrophysiology]] | [[Category:Electrophysiology]] | ||
[[Category:Disease]] | [[Category:Rare Disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
Latest revision as of 15:08, 17 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
- The most common symptoms of Andersen-Tawil Syndrome include periodic paralysis, ventricular arrhythmias, syncope, muscular weakness, developmental abnormalities, sudden cardiac death and seizures.
History and Symptoms
History
Patients with Andersen-Tawil Syndrome may have a positive history of:
Common Symptoms
Common symptoms of Andersen-Tawil Syndrome include:[1][2]
- Periodic paralysis which are related to hypokalemia and are spontaneous in nature
- Ventricular arrhythmias
- Extrasystoles: Premature ventricular contraction
- Arrhythmic syncope
- Intermittent muscular weakness
- Skeletal developmental abnormalities
Less Common Symptoms
Less common symptoms of Andersen-Tawil Syndrome include:
- SCD(sudden cardiac death) is due to sudden hemodynamic collapse
- SCA: Spinocerebellar ataxia
- Generalized seizures, which are often misdiagnosed as primary seizure disorder
- Learning difficulties
References
- ↑ Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A; et al. (2002). "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)". J Clin Invest. 110 (3): 381–8. doi:10.1172/JCI15183. PMC 151085. PMID 12163457.
- ↑ Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S; et al. (1997). "Andersen's syndrome: a distinct periodic paralysis". Ann Neurol. 42 (3): 305–12. doi:10.1002/ana.410420306. PMID 9307251.