Andersen-Tawil syndrome history and symptoms: Difference between revisions

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=== 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 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.

Revision as of 00:33, 5 February 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Charmaine Patel, M.D. [2]; Raviteja Guddeti, M.B.B.S. [3]

Symptoms

History and Symptoms

  • The majority of patients with [disease name] are asymptomatic.

OR

  • The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
  • Symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

History

Patients with Andersen-Tawil Syndrome may have a positive history of:

  • Periodic paralysis
  • Cardiac symptoms
  • Ventricular arrhythmias
  • [History finding 3]

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

  1. 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.
  2. 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.


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