Andersen-Tawil

Andersen-Tawil Syndrome

The Action Potential - A Movie!

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.

Periodic Paralysis and the New Mother

Anticipating the Baby

 

Expectant mothers and their doctors can take the secure thought that hundreds of women with periodic paralysis have been members of our Listserv since 1995, and an overwhelming majority of them have been mothers. To date not a single one has been unable to care for her child due to her periodic paralysis.

Physician's Reading Room

For your convenience, arranged by topic, a "shelf" of journal articles on the periodic paralyses.

If you have a favorite link to suggest please pass it along.

ECG Features in ATS Patients With KCNJ2 Mutations

Electrocardiographic Features in Andersen-Tawil Syndrome
Patients With KCNJ2 Mutations

Characteristic T-U–Wave Patterns Predict the KCNJ2 Genotype

Li Zhang, MD; D. Woodrow Benson, MD, PhD; Martin Tristani-Firouzi, MD; Louis J. Ptacek, MD;
Rabi Tawil, MD; Peter J. Schwartz, MD; Alfred L. George, MD; Minoru Horie, MD, PhD;
Gregor Andelfinger, MD; Gregory L. Snow, PhD; Ying-Hui Fu, PhD;
Michael J. Ackerman, MD, PhD; G. Michael Vincent, MD

Nondystrophic Myotonias and Periodic Paralyses

This chapter from McGraw Hill's Myology, third edition; editors Andrew Engel and Clara Franzini-Armstrong,  give a comprehensive look at the nondystrophic myotonias and periodic paralyses, written by one of the world's top teams in the field.

Chapter from Myology, third edition: Nondystrophic Myotonias and Periodic Paralyses by Frank Lehmann-Horn, Reinhardt Rudel and Karin Jurkat-Rott.

Our thanks to Professor Dr. Lehmann-Horn, Dr. Jurkat-Rott and Dr. Rudel for your kind permission to include this valuable information on our website!

How is periodic paralysis diagnosed?

Do you suspect that you might have periodic paralysis? The periodic paralyses are a rare group of disorders and there are many conditions which cause an imbalance in serum potassium. So how does the doctor tell the difference between paralysis or weakness caused by an ion channelopathy and any of the other numerous disorders, conditions and reactions which might produce the same symptoms?

Emergency Care for an Attack of Andersen-Tawil Syndrome

First Actions:

  • Respiratory and cardiac arrest are possible.
  • Call for Cardiac Monitoring/EKG
  • Draw electrolytes to determine serum K+
  • Provide 02 as thimble may not reflect 02 saturation due to cardiac dilitation
  • Lie patient in coma position to avoid aspiration.

Pursuing a Diagnosis of Periodic Paralysis:


A free workbook to download for those who are in the diagnostic process, contains information on each type of PP, diagnostic testing, available therapies, how to determine episode triggers and  work out a management plan. download here

Role of Potassium in Maintaining Health


by Elson M. Haas, M.D.

Diet for Patients with Hypokalemic Periodic Paralysis

Designed by the National Institutes of Health    

This information is based on a diet designed at the National Institutes of Health in the 1960s for a young man with Hypokalemic Periodic Paralysis (HypoKPP). According to the NIH physicians and dietician Mary R. Emerson, plus many other medical authorities, those with HypoKPP should follow a diet which is high in protein, low in carbohydrate, and low in sodium.

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