Questions

[AANM]

Hello, I’m not sure which thread I should be posting in. I was hoping to get advice/suggestions. My 22 year old son was diagnosed with limb onset ALS in October 2024. His initial symptom was weakness in his left hand. He now has weakness in the right hand and extreme tightness and tremors like in his left leg. He calls it his pirate leg. He has fell twice, it was when the weather was extremely cold. The outside camera caught it, and to me it looks like he wasn’t picking his foot up high enough. I know there is not a specific timeline on how things progress, I was seeing if there are certain signs to look for when his leg/legs are about to cause problems with walking. Also, I’ve noticed he clears his throat a lot now and has began to have hiccups frequently. He also mentioned that sometimes when he eats, it feels like something is stuck in his throat. I’m not sure if this is anything ALS related.

 

[Nikki J]

These things are important to discuss with the doctor. I hope he sees and was diagnosed by an als specialist.

The leg issue sounds like it could be spasticity especially if it is worse when cold. This is part of als. There is medication that could help but removing spasticity can unmask weakness

The swallow could also be related and should be assessed by the doctor and the speech therapist

I am terribly sorry 22 is terribly young. I expect / hope he had genetic testing?

 

[AANM]

Yes, he was diagnosed by a neuromuscular specialist. He has also had two other specialist opinions. He has had genetic testing done, Neuromuscular NGS panel, AIAES PANEL, and lots of other blood test. He is on baclofen, he hasn’t noticed a big difference with it. He is also on Riluzole, I can only get him to take it once a day instead of twice. He is on Oxybutynin due to having bladder spasms. We recently went to the ALS clinic and he didn’t offer information about any of the problems, it might be his way of coping right now to act like it doesn’t exist. I’m concerned with the swallowing issue. At the clinic we saw a nurse practitioner for the pulmonary function test and she said the test was normal, but was later released in chart by the pulmonologist and specified he had mild to moderate impairment in the respiratory muscle strength. I’ve attached the pft results.

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