Many thanks to Dr Cannon for giving us a good perspective on genetic testing of periodic paralysis and earlier Prof. Horn from Germany had helped me by identifying a mutation in SCN4A gene for my HyperPP condition.
Hi. Shooting a long shot here. 23 years old. For a little over a year, i have suffered from 4 attack, where i suddenly get numb/paralyzed on my right side of my body. It goes from 0-100 in around 10 seconds. With my first attack, my symptoms lasts 3,5 months. Since then, all of my other attacks have lasted for around 2-4 weeks. With my attacks come numbness/paralasis, trouble speaking/mumbling, nausea and extreme fatique.. When i stand up for 1-2 minutes, my right srm will then turn blue, stiff and get white spots. No doctor seems to know what to do.. It is affecting my life, and im scared every day.. - from Josephine From Denmark
Josephine, we are sorry to hear that you are struggling. If you are an American citizen, there is a no cost genetic test your doctor can request for you that may provide you some answers. Here is the link www.invitae.com/en/uncoveringperiodicparalysis/ If you have any questions, contact us through Ask an Experts on our website. Here is the link periodicparalysis.org/ask-the-experts-disclaimer/
I am clinically diagnosed with SCN4A gene, and have the periodic paralysis variant. How rare is this? It took 30 years to get a diagnosis around 4 years ago, and I still feel I don’t know much about it. I do have good support from Queens Square London.
It is currently believed that 1 in 100,000.00 people have PPP. You can learn more about this condition from our other episodes. We have medical and patient story episodes that might be helpful to you gathering a better understanding of this condition.
Am curious if this might be a problem for me , as sometimes weak or get hand or foot locked up or weird carmps feet working up. Just thought was elctrolytes (Mg sometimes helps , pickle juic diluted also) . Fatigue from heat or cold or ? Thought could be low BG. Dr's say all fine as normal labs are fine. Can ck my 23andme data for some snps that show on Snpedia maybe when brain has better focus. Mom always had good energy (Dad not).
this was very informative - thanks so much for sharing! will the links that were shared amongst participants in the live chat be shared in the description here or in the comments section? :)
You are very welcome. We are glad that you found this webinar helpful. Here is the link for the genetic testing program. www.invitae.com/en/uncoveringperiodicparalysis/ Here is the link to the database. www.ncbi.nlm.nih.gov/clinvar/
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Many thanks to Dr Cannon for giving us a good perspective on genetic testing of periodic paralysis and earlier Prof. Horn from Germany had helped me by identifying a mutation in SCN4A gene for my HyperPP condition.
Thank you for sharing and for your kind regards for Dr. Cannon.
thank you.
You're welcome!
Thank you just came into this valuable information
Hi.
Shooting a long shot here. 23 years old. For a little over a year, i have suffered from 4 attack, where i suddenly get numb/paralyzed on my right side of my body. It goes from 0-100 in around 10 seconds. With my first attack, my symptoms lasts 3,5 months. Since then, all of my other attacks have lasted for around 2-4 weeks. With my attacks come numbness/paralasis, trouble speaking/mumbling, nausea and extreme fatique.. When i stand up for 1-2 minutes, my right srm will then turn blue, stiff and get white spots. No doctor seems to know what to do..
It is affecting my life, and im scared every day..
- from Josephine From Denmark
Josephine, we are sorry to hear that you are struggling. If you are an American citizen, there is a no cost genetic test your doctor can request for you that may provide you some answers. Here is the link www.invitae.com/en/uncoveringperiodicparalysis/ If you have any questions, contact us through Ask an Experts on our website. Here is the link periodicparalysis.org/ask-the-experts-disclaimer/
I am clinically diagnosed with SCN4A gene, and have the periodic paralysis variant. How rare is this? It took 30 years to get a diagnosis around 4 years ago, and I still feel I don’t know much about it. I do have good support from Queens Square London.
It is currently believed that 1 in 100,000.00 people have PPP. You can learn more about this condition from our other episodes. We have medical and patient story episodes that might be helpful to you gathering a better understanding of this condition.
Am curious if this might be a problem for me , as sometimes weak or get hand or foot locked up or weird carmps feet working up. Just thought was elctrolytes (Mg sometimes helps , pickle juic diluted also) . Fatigue from heat or cold or ? Thought could be low BG. Dr's say all fine as normal labs are fine. Can ck my 23andme data for some snps that show on Snpedia maybe when brain has better focus. Mom always had good energy (Dad not).
this was very informative - thanks so much for sharing! will the links that were shared amongst participants in the live chat be shared in the description here or in the comments section? :)
You are very welcome. We are glad that you found this webinar helpful. Here is the link for the genetic testing program. www.invitae.com/en/uncoveringperiodicparalysis/
Here is the link to the database. www.ncbi.nlm.nih.gov/clinvar/