Family Genetic Testing Finds SCNA4A Variant Defect | PPA SUMMIT 2021 Supercut #3

In the 3rd part of a 6 part "SUMMIT SUPERCUTS" video series about Periodic Paralysis, Dr. Steve Cannon discusses a recent discovery in a family thought to have HypoPP only to find that they may have HyperPP instead. Dr. Cannon discusses the findings from the genetic testing of several members of the same family to some astonishing results. This presentation was filmed at the annual PPA Conference in Orlando, Florida along with 5 other discussions about PP. If this discussion was insightful, you might find the other talks in this series helpful as well.

You can watch all 6 Summit Supercuts from the 2021 PPA Conference here:
Summit Supercut 3 - Family Genetics Finds SCNA4A Variant Defect : Watching

#PeriodicParalysis #SCNA4A #FamilyGenetics

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[jackiewebster]

This is fascinating to me. While several members of my family exhibit symptoms, my son (age 26), is the only one who has had genetic testing, showing a mutation in SCN4A. This testing was done to substantiate a diagnosis of HKPP. Since that time, one of my daughters (age 21) was diagnosed with MS at the age of 16. As there is an overlap of her symptoms with my son’s, I can’t help but think we’re missing something. I have two other daughters (ages 24 and 18) all exhibiting symptoms of what we call HKPP, but wish I knew more. Information like this is incredibly beneficial in helping to unravel our family‘s medical mystery. I wish we had a team helping us put this frustrating puzzle together. Thank you for the work you’re doing in this field and for sharing!

[leroyavila]

Beckers myotonia congenita is autosomal recessive, meaning it’s passed on by both parents and I’m a 60 year old male that has always had the disease and the only one in my family with this disease.

[eduardodomini]

Hola vivo en Argentina, como puedo contactarlos