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 1 - Repurposing A Drug for Preventing Attacks of PP : • Repurposing A Drug for...
Summit Supercut 2 - Safe Anesthesia for Periodic Paralysis Patients : • Safe Anesthesia for Pe...
Summit Supercut 3 - Family Genetics Finds SCNA4A Variant Defect : Watching
Summit Supercut 4 - Paramyotonia Congenita: • Paramyotonia Congenita...
Summit Supercut 5 - CRSPR Gene Editing for PP Patients : • CRISPR Editing for Rar...
Summit Supercut 6 - Andersen-Tawil Syndrome (ATS) : • Andersen Tawil Syndrom...
#PeriodicParalysis #SCNA4A #FamilyGenetics
Periodic Paralysis is an extremely rare disease and you may have a lot of questions, a great resource to help find answers can be found at the PPA website at www.periodicparalysis.org
We'd love to hear from you. Comment below on your experience with PP or with questions about the condition.
You can also donate at
www.periodicparalysis.org/donate
Your donation will help with Dr. Cannon's genetic research or a list of other extremely helpful options. The great thing is you can decide how you want your donation to be used.
________________________________________
Connect with us on social:
Facebook: / periodicparalysisassoc...
Instagram: / periodicparalysis
________________________________________
If you liked this video, please hit the like button, subscribe to our channel and hit the bell button to receive future videos.
#PPA #NotFaking #paralyzed #genetictesting #Variant
________________________________________
Пікірлер: 6
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!
@PeriodicParalysisAssociation
2 жыл бұрын
Jackie, thank you for sharing your story. Monica's episode's on our KZread channel (part 1-3) is the Monica he mentions at the beginning of his presentation. You may find her story interesting. No cost to you genetic testing is available to you and your family, if you live here in the US. Here is a link www.invitae.com/en/uncoveringperiodicparalysis/ . You may find it helpful in finding answers for the rest of your family. Any medical questions can also be answered through the Ask an Expert link on our website periodicparalysis.org . We hope this information is helpful to you and your family.
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.
@PeriodicParalysisAssociation
Жыл бұрын
Leroy, thank you for sharing your story with us.
Hola vivo en Argentina, como puedo contactarlos
@PeriodicParalysisAssociation
2 жыл бұрын
Hello, you can contact us through our website. periodicparalysis.org/