Forms of Periodic Paralysis
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.”
“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]. “
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:
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
Join a Periodic Paralysis Community
Medical Equipment and Supplies to Manage Periodic Paralysis.
Wrist Blood Pressure Device
Blood Sugar Monitor
PERIODIC PARALYSIS NETWORK
Hope - Support - Education - Advocacy
The Books: “Living with Periodic Paralysis: The Mystery Unraveled,” "The Periodic Paralysis Network Workbook And Guide,” “A Bill Of Rights For Periodic Paralysis Patients” and “What Is Periodic Paralysis: A Disease Like No Other"
How To Use This Site
Please use the navigation buttons and links to access our information.