Genetic Testing

[kmroch]

I had a previous thread on here, but couldn't post on it as it won't allow new comments.

(added by mod: Myopathic EMG and Neurogenic Biopsy )

Have been seeing Neuro since Feb 2023 on multiple issues that was explained in previous post. Several months ago my symptoms have progressed to spasticity, cramps, spasms and still the twitching in multiple limbs. The spasticity is now considered moderate in both legs and lower back with more mild spasticity in upper shoulders. Seen or has consults now with 5 neuros in different subspecialties. All are very puzzled with the multiple symptoms that keep popping up that is progressive in disability. Several possibilities have come up in the last months including MSA, MND, Stiff Person Syndrome, Parkinsoniasm and others. They are now doing genetic testing again, this time they are doing an ALS panel and Hereditary Spastic Paraplegia. So I'm told they are back to suspecting possible ALS despite the last EMG which was still only showing Myopathic abnormality and fasciculations in the left calf. Has anyone gotten these genetic ALS panel test before as a possible way to diagnose? Just curious as I am not really sure if these test help in diagnosing. They mentioned one gene that they will play close attention to that is well known to cause sporadic and Hereditary ALS. Thank you all.

 

[Nikki J]

Testing positive for an ALS mutation is specifically excluded from the current ALS diagnostic criteria. The panel that wrote them went out of their way to say that they should not be factored into any diagnosis of ALS.

 

[kmroch]

Received ALS Genetic Panel results today. I attaching partial report. Have not talked to Dr on this yet so not sure what it all means. Any insight would be appreciated.

 

[Nikki J]

As it says uncertain significance. Two people with ALS had it but it might have been just coincidence as everyone has genetic glitches. Most are not harmful. One of the two people who had ALS and this also had a mutation that is known to cause ALS. The latest recommendations for ALS genetic testing included a recommendation that the panels should not include mutations lie this where the interpretation is not clear as it just makes things more confusing.

As I noted before the current diagnosing criteria say genetic status should not factor into diagnosis

 

[kmroch]

Just received my diagnosis last Monday. CBD, corticobasal degeneration. Rare and complex and I was told that's why it was difficult to diagnose. Dr. stated it's similar to ALS progression, but hopefully will progress slower. I thank everyone on here for your help, but I know this isn't the forum for what I have. Blessings and love to everyone.

 

[Nikki J]

I am glad you got an answer but sorry it wasn’t a better one. Hope your progression is glacially slow