Interesting thoughts from Dr Cannon on why hEDSrs may have PP.

@PeriodicParalysisAssociation

2 жыл бұрын

Vivian, we are glad you find these episodes interesting. Be sure to subscribe to this channel so that you don't miss any new ones.

Before I knew what PP was, I was suspected for a connective tissue disorder but my genetic test was all VUS's. I'm currently waiting on PP genetic tests and found this segment extremely helpful/fascinating/informative. Thank you!!

@PeriodicParalysisAssociation

2 жыл бұрын

KM, we are glad that you found this segment helpful. You may want to consider sharing it with your doctor to possible help them understand what might be causing your symptoms. We hope the genetic test provides some answers for you.

What about ahus . Ahus and vus are same ?

I was surprised to hear Ehlers-Danlos was considered rare as I feel like I've seen it mentioned a lot of PPP groups, but if its oddly common in those circles that makes sence. Ive suspected my sister to have it or something similar and she also has episodoal weakness. Though she hasnt been dxd with anything yet.

@PeriodicParalysisAssociation

2 жыл бұрын

Melissa, a genetic test can be helpful for those that have EDS. Invitae has an EDS genetic test. I hope it is able to provide her with some answers.

@melissarichards4716

2 жыл бұрын

Thanks, I'll suggest that to her. We just got the new PPP Invitae panel back. No obvious matches but we had 2 VUSes. RYR1 and mmsomething. That was my daughters results at least, we plan on doing some more. It will be interesting to see all the results as they come in and how they connect to each other

Are you aware of any paralysis related illnesses that could be connected to the DYSF gene? I have almost daily episodes of paralysis, with the longest one lasting 40 hours. The VUS that showed up seems to be very rare, with it only being mentioned a couple of times in online reports. Thanks!

@PeriodicParalysisAssociation

2 жыл бұрын

Ramona, if you go to www.ncbi.nlm.nih.gov/clinvar/?term=DYSF%5Bgene%5D you will see the current research on DYSF variants. What many are associated with is Dysferlinopathy and muscular dystrophy. Has your doctor mentioned either of those diseases as a possible diagnosis? The proper diagnosis is and treatment is very important to your quality of life. We hope this information is helpful in providing answers for you.

My baby had IEE and his genetic test came back as VUS(clinical and whole exome) -DEE 84 . He had refractory seizures resistant to.multiple anti epileptics due to which he passed away last month.what should we do if are planning for the next pregnancy? Could you please reply

@PeriodicParalysisAssociation

7 ай бұрын

Hi, we cannot give out medical advice and recommendations here on KZread. You can ask questions like this on our Ask The Experts page here periodicparalysis.org/ask-the-experts-disclaimer/

If I'm taking in enough potassium and nothing is wrong with my kidneys (according to the doctor), How is this able to affect my life so profoundly?

@PeriodicParalysisAssociation

10 ай бұрын

Primary Periodic Paralysis is a complex channelopathy that most doctors unfortunately do not understand. Here is a video that will better explain. kzread.info/dash/bejne/dKKImrKictjFnMY.htmlsi=mq8umr1HWs5Xkx81 If you have further questions, please contact us through the Ask the Experts portal on our website. Here is the link. periodicparalysis.org/ask-the-experts-disclaimer/ We hope you find this information helpful.

Vus ?

@PeriodicParalysisAssociation

10 ай бұрын

VUS is known as Variant of Unknown Significance. Dr. Cannon talks about VUS in the video.