Trying to get some reassurance

[Nikki J]

One lonely fasciculation does not seem a cause for concern. What did the summary say? Even a complex fasciculation potential which this does not seem to be would not be a red flag without other findings. You know he twitches. Benign twitches are sometimes caught on emg

 

[Terra]

This was the doctors note. His knee has been twitching daily multiple times a day in the same spot. He gets his leg EMG done tomorrow and hoping that comes back good. If he tells them to test the muscle that keeps twitching and the EMG is normal, does that rule out MND? We weren’t quite sure at which point MND will show on EMG after the twitching has started.

 

[Nikki J]

So the doctor was completely unconcerned by the fasciculation according to the summary. The borderline comment comes from the nerve conduction study showing a possible mild carpal tunnel which has nothing to do with ALS. The abnormality was sensory only not even motor. They specifically state no evidence for motor neuron disease

If he has a normal emg yes it rules out als when combined with his normal exam and other normal emgs. He can point out where he twitches but the neurophysiologist is the person to decide what muscles get tested

 

[Terra]

Thank you so much for your help. Still awaiting the previous EMG results for his legs, but we did get the genetic test results back today which were negative. It was the ALS with c9orf72 panel. Does anyone know how genetic tests work? His mothers mom passed away from ALS at the age of 69. She was never tested so there is nothing to cross reference for the genetic testing or am I not understanding that correctly?

 

[Nikki J]

I am not sure what you are asking c9 is the most common genetic cause of ALS in North America and Europe. It tends to be one of the later manifesting ones so IF there were a genetic cause in the family would be even more likely at 69 If someone has a known family mutation then yes you can test for it. Otherwise ruling out c9 is a common strategy

A positive genetic test does not diagnose ALS and a negative one doesn’t rule it out but it is a data point especially as you were worried about his grandmother. Yet another data point against. You do not mention the results of Friday’s emg? Assuming it was fine it is time to let it go

 

[Terra]

Sorry, I should have been more specific. These are the genetic testing results. He was primarily concerned about if he had the familial ALS. We got the genetic testing done but not sure what it rules out. We don’t know what caused his grandmother to have the disease and she was never tested genetically, but there are no other known relatives who have been diagnosed. We were mostly concerned because of the family history and was hoping the genetic testing could tell us something to ease our mind. We are still awaiting the EMG results but I’ll be sure to provide an update once they are in.

 

[Nikki J]

He was tested for all testable mutations which account for about 70% of what is clearly genetic ALS. The untestable ones are not identified but believed to be ultrarare. Given there is one relative 2 generations away who had ALS at a very typical age you should take these results and run with them. Once you know his emg was ok ( and bad news travels fast) it is time to move on from this site

 

[Terra]

Just wanted to circle back and provide an update in hopes that this could help. His EMG on his legs came back normal. We are going to remain hopeful and hope that time will give us the peace of mind we are looking for. Looking forward to the next follow up appointment in September with the neuro. Thank you all so much for the information and support. Wishing you all the best. Bless you all. The selflessness and help that you offer is truly amazing and inspirational.