Submitted by deb on Mon, 04/16/2018 - 21:17
Andersen-Tawil Syndrome (ATS) is a genetic disorder which causes a distinctive pattern of features;
1) Episodes of muscle weakness and/or flaccid paralysis (i.e periodic paralysis)
2) Certain kinds of heart rhythm disturbances and
3) Differences in facial and body structure.
Submitted by deb on Mon, 09/18/2017 - 22:19
Hypokalemic periodic paralysis (HypoKPP) is one of the primary forms of periodic paralysis, caused by one or more mutations in the calcium, sodium or potassium ion channels in muscle membrane.
Features of Hypokalemic Periodic Paralysis
There are two forms of HypoKPP, a paralytic form and a myopathic form.
Submitted by Anonymous (not verified) on Mon, 05/08/2017 - 06:25
This comprehensive article is from the National Organization for Rare Disorders (NORD)
NORD gratefully acknowledges Rabi Tawil, MD, University of Rochester Medical Center, Professor of Neurology for assistance in the preparation of this report.
Synonyms of Andersen-Tawil Syndrome
Andersen Syndrome
ATS
Long QT Syndrome 7
LQTS7
General Discussion
Summary
Submitted by deb on Tue, 04/12/2016 - 22:54
Adverse reactions to anaesthesia, including life-threatening events, are a serious concern for patients with Periodic Paralysis Disorders. Many of our patients report serious events associated with anesthesia and side effects which may linger for days to months.
There is rarely time for a surgical team to comb through journals and texts for the specialized knowledge needed to care for the patient with periodic paralysis.
Submitted by deb on Wed, 12/17/2014 - 00:58
Submitted by deb on Sun, 11/09/2014 - 21:32
Focal and abnormally persistent paralysis associated with congenital paramyotonia.
Magot A1, David A2, Sternberg D3, Péréon Y1.
British Medical Journal Case Report 2014 Jun 17;2014.
Abstract
Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia and cold-induced persistent and focal paralysis.
Submitted by deb on Fri, 08/09/2013 - 20:17
This comprehensive article, written by a practicing physician who has hypokalemic periodic paralysis enables the GP or Neurologist who has never encountered a patient with the disease before to manage them with confidence.
Submitted by deb on Fri, 08/09/2013 - 19:33
Children with Periodic Paralysis may require extra help or specialized services to be able to attend school. Laura Kaloi, Public Policy Director at the National Center for Learning Disabilities, explains the ins and outs of Individualized Education Programs (IEPs) in this video. For more information about IEPs, see "What Is an IEP?".
Submitted by deb on Tue, 07/03/2012 - 18:45
Measuring quality of life impairment in skeletal muscle channelopathies.
Eur J Neurol. 2012 May 19. doi: 10.1111/j.1468-1331.2012.03751.x. [Epub ahead of print]
Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; INQoL Group.
Source
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy.
Abstract
Link to pdf copy of entire article
BACKGROUND AND PURPOSE:
Submitted by deb on Tue, 07/03/2012 - 18:25
Puzzled by the terms membrane potential, sodium channel, potassium channel and sodium-potassium pump?
This cute cartoon explains what each is and shows how the potassium and sodium channels, and the sodium potassium pump maintain muscle membrane potential. Although this uses nerves to illustrate how the principle works, the action is the same in muscle membrane. Click here to watch.
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