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Forms of Periodic Paralysis

 

Hypokalemia by Wikipedia

Hyperkalemia by Wikipedia

Andersen-Tawil Syndrome by Wikipedia

Andersen-Tawil Syndrome by Humpath.com

Channelopathies by Humpath.com

 

How Common Is Andersen-Tawil Syndrome?

 

Andersen-Tawil syndrome is a rare genetic disorder; its incidence is unknown. About 100 people with this condition have been reported worldwide. Type 1 accounts for about 70% of all cases of Andersen-Tawil syndrome. Type 2 accounts for the remaining 30% of cases of Andersen-Tawil syndrome.

 

According to Rabi-Tawil, MD: ATS1 and ATS2 are phenotypically indistinguishable, regardless of the presence of a KCNJ2 mutation

 

“Gene. KCNJ2, encoding the inward rectifier potassium channel 2 protein (Kir2.1), is the only gene known to be associated with Andersen-Tawil syndrome type 1 (ATS1). Other loci. To date, no other loci have been identified to account for ATS (termed Andersen-Tawil syndrome type 2, or ATS2) in the 40% of kindreds not linked to KCNJ2.”

 

Genotype-Phenotype Correlations

 

“Individuals with clinically defined ATS are phenotypically indistinguishable, regardless of the presence of a KCNJ2 mutation (ATS1) or absence of a KCNJ2 mutation (ATS2) [Tristani-Firouzi et al 2002, Donaldson et al 2003]. “

 

http://www.ncbi.nlm.nih.gov/books/NBK1264/

 

Genetics & Inheritance

 

Andersen-Tawil syndrome type 1 is caused by mutations in the KCNJ2 gene. The cause of cases of Anderson-Tawil syndrome type 2 is unknown. Andersen-Tawil syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, a person with Andersen-Tawil syndrome inherits the mutation from an affected parent. Other cases result from new mutations in the KCNJ2 gene. These cases occur in people with no history of the disorder in their family.

 

How Do I Get a Diagnosis? by Susan Q. Knittle-Hunter

 

In order to get a diagnosis, one must get all the facts together....This is how I did it:
 

  • 1. The proper tests, ruling everything else out...(ie, MRI's, spinal taps, lab work, xrays, emgs) 
  • 2. Lab work showing either low potassium, high potassium and/or paralysis during shifting in normal ranges (I have all three).
  • 3. Periods of paralysis, either total or partial, which can be documented (I had these in the PCP's office several times and at the hospital on 3 occasions, and in front of at least 5 doctors/specialists as well as a physical therapist and an EMG technician; all of them shrugging their shoulders and sending me on my way when I was able to).
  • 4. ECGs consistent with "ion channelopathy".
  • 5. Oximeter (oxygen) recordings indicating, levels dropping during paralysis.. # 1-5 above can give one a "clinical diagnosis"
  • 6. Genetic testing. (Still waiting). #2,4,5 need to be done while in the paralysis....so may need to be done for more than 24 hours until each is documented, during the episodes. #2 may need to be done several times until a baseline is established and then during episodes every 5 to 10 minutes...not just one blood draw....there is no way to see the shifting otherwise. If the shifting is in the normal ranges, it may never show up during tests, unless it is done every few minutes. May need hospitalization to do this. #3 video taping is the best way to do this. 
  • 7. Gather all previous medical records and ask for all doctors' records from each appointment you attend. Also, get all lab records, xrays, hospitalizations, etc.
  • 8. It is also important to chart the triggers for the episodes. Documenting an increase of episodes after eating carbs or red meat, after exercising or after taking certain medications is important for being able to control the episodes.
  • 9, Documenting a reduction of episodes when using potassium is good. This can indicate the loss of potassium after shifting.
  • 10. Putting together a team of doctors is helpful for a diagnosis: A PCP who knows about Periodic Paralysis or is willing to learn and a Neurologist, an Electrocardiologist, and a Nephrologist (All knowledgeable about PP or willing to learn).
  • 11. If one suspects Andersen-Tawil Syndrome, gather as much medical information as possible from family members and note the characteristics/symptoms. Create a family flowchart with this information. Adding pictures can be helpful in demonstrating the characteristics.

Periodic Paralyses

 

Differential Diagnoses & Workups by WebMD

 

How Do I Treat/Manage Periodic Paralysis? by Susan Q. Knittle-Hunter

 

Discover your triggers
Avoid your triggers 
Monitor your vitals
Obtain medical equipment
Gather together a team of medical specialists 
for diagnosis, for treatment, for follow-up
Educate yourself 
Join a Periodic Paralysis Community

 

Medical Equipment and Supplies to Manage Periodic Paralysis.

 

Tools and Supplies

 

Cardy Meter
Oximeter
Stethoscope
Wrist Blood Pressure Device
Ear Thermometer
PH Monitor
Blood Sugar Monitor

 

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