Could this be ALS/MND - possible family history?

jayhawkwilliams

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This is my first time posting about some concerning symptoms I am having. I will state that my father was diagnosed with ALS in Jan of 2019 at age 70. We originally thought his diagnosis was sporadic. We now have another family member, my father's niece, aged 63, who will most likely be diagnosed with ALS on the 23rd of August. They have ruled out everything else, almost.

I am the 51 year old daughter. I was diagnosed in January of 2020 with benign fasciculation syndrome at the same ALS clinic that diagnosed my father. I returned to the clinic just two weeks ago, but was given a clean clinical. I was again told it was benign fasciculation syndrome and symptoms were most likely increasing due to anxiety. There was no additional testing or imaging requested.

My current symptoms are all on my right side:
Fourth toe on right foot lies sideways and is very weak - neurologist noted this but said she was unsure what was causing it, possibly sciatica issues
When I spread toes on my right foot, they stay spread out for about 10 seconds, then the 2nd, 3rd and 4th toes collapse down
I have a raised arch on my right foot and I am walking on the outside of the foot
I have constant cramping and light fasciculations in my right leg (cramping only in calf)
I have constant spasms or muscle twitches in my right glute
I have constant spasms or muscle twitches in my right side of my mid and lower back
I have light fasciculations in my right arm - occasional muscle spasms - and this arm feels weak, but no clinical weakness was observed at my neurologist visit
I have had constant twitching around the mouth area - right side - and a few instances of chin twitching - since June of 2020
I have tongue twitching and tremors for the past month - tongue twitching occurs at rest in mouth too
Right arm has major fasciculations all over after too much exertion
My esophagus often feels like it is twitching internally
Cannot whistle as strongly as before
My body often feels like it is "trembling" internally all over
Twitching in the thenar region of right hand
thumb twitching /movement occasionally

I have been completing physical therapy as my PCP thought the glute issues could be sciatica. Nothing has improved after 5 weeks of PT.
I am happy that the neurologist provided me with a clean clinical, but she will see me again in 6 months. I am still worried.

Does this sound at all like ALS? Would the twitching be not so widespread if it were indeed an ALS onset?
 

Nikki J

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It doesn’t raise any red flags to me. Twitching without other findings is not worrisome. Your only other issue appears to be the whistle which is pretty vague I hope if your cousin is confirmed to have ALS she will be tested for FALS mutations. If she has one identified you could consider testing for it. A positive mutation does not diagnose you but a negative test would be hugely reassuring.
 

jayhawkwilliams

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The neurologist did tell me if she was additionally diagnosed that she would ask me about genetic testing. I believe that my cousin will go ahead with the testing if diagnosed. My father was never tested as we believed his to be sporadic. I thank you for the speedy response. I forgot to mention, in addition to the mouth twitching, I do have twitching in my right cheek too. It’s is really distressing that everything is occurring on my right side. I am glad to hear that this does not raise any red flags for you. I know that I should have more faith in the neurologist diagnosis of bfs. It took a long time though to diagnose my father so I’m worried she’s missing something. I have a young family of three boys, and am now having severe anxiety it’s coming for me next and then for one or more of my children.
 

Nikki J

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There are therapies in trial right now for the major FALS mutations. my neurologist says not to worry about the next generation. If you are of European descent and it is FALS it is likely C9orf72. There is one therapy finishing a phase 1 trial and another just starting also some other approaches expected to start trials soon.
 

jayhawkwilliams

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I was able to get an ncs/emg performed on the 25th. I am having a "pulling" feeling on the right side of my tongue and they didn't test any neck, tongue or facial muscles. Could I still have Bulbar ALS even with this clean ncs/emg?
 

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Nikki J

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You had a number of extremity complaints and if they and the fasciculations were due to lower motor disease it would have showed. What happened with your cousin?
 

jayhawkwilliams

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Sadly, she was diagnosed with "ALS by exclusion" mid-week last week. We are all totally devastated for her. I'm unsure of your reply to my question...does this ncs/emg and clean clinical mean Bulbar ALS is not possibly occurring for me right now or would I need to get another emg of facial or tongue muscles?
 

Nikki J

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For you to have isolated bulbar onset would mean that all your neck down symptoms are something else benign which doesn’t seem reasonable. If the neurologist found nothing on exam it wwould be even more unlikely. Most people with bulbar even without symptoms elsewhere will show limb abnormality on emg Discuss this with your doctor who would say if more testing is warranted by your presentation

i am sorry for your cousin. Unclear what you mean diagnosis by exclusion. There are 2 parts of an ALS diagnosis meeting the emg and clinical exam criteria and excluding possible mimics. Just having negative mris and bloodwork etc should not yield a diagnosis without the emg and exam findings but maybe you meant she had those things and then got the rule outs
 

jayhawkwilliams

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My cousin did have all of the testing and every other disease was ruled out. She did meet the EMG and exam criteria. I am wondering if you could recommend any clinical trials for me in regards to FALS? Should my father be submitting a genetic sample? My father was 70 when diagnosed; my cousin was 63. Does FALS strike earlier in each additional family member?
 

Nikki J

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Genetic testing should be done on affected family member so yes your father and your cousin. If there is an identified mutation then you could consider genetic testing.

unless your family is found to have sod1 and you are then found to carry the mutation there are no trials for carriers. There is one right now for some variants of SOD1.

However there are observational studies for carriers and potential carriers. Without an identified family mutation the one you would currently qualify would be DIALS which has sites in Boston and St Louis. St Louis is Wash U. I will look up the link if you want

Generally no to genetic anticipation. They originally thought it was so for my mutation but now say no. You will of course find people reporting earlier onset than their parent but also same or later. The plural of anecdote is not data 😀
 
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