Possible Familial ALS 21 year old male

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Jan 30, 2024
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Info: 21 year old male, symptom onset August 2023, clean MRI (october 2023) and clean hand + leg emg ( febuary 2024)

Hello everyone,
I hope you're all doing well. I'm reaching out because I've been experiencing some concerning symptoms over the past several months, and I'm feeling quite lost and uncertain about what might be happening to my body. I'm hoping to share my journey here and gather some insights and advice from this community.

My symptoms began in August last year, primarily with joint pain in my left ankle while running and weakness in my left leg. Soon after, I started experiencing twitching in my left thigh, followed by numbness and weakness spreading to my left arm by mid-August. Throughout September and October, the twitching persisted and spread to my left arm and then further to my right arm and leg. Notably, I also observed visible muscle loss in my left arm during this time.

In November, I encountered additional challenges, including difficulty chewing and swallowing, with food frequently getting stuck in my throat. Constipation became an ongoing issue, accompanied by increased gasiness, making me extremely uncomfortable. By December, I noticed cognitive difficulties, particularly in pronunciation and word formation. The twitching continued to spread to new areas like my back, shoulders, neck, lower back, stomach, and even the top of my head.

Concerned about these symptoms, I underwent a physical neuro examination in December, which surprisingly showed normal results. However, as the symptoms progressed into January and February, breathing became more difficult, and swallowing continued to deteriorate. Despite taking laxatives, constipation persisted, and I noticed weakness in my core muscles, making it challenging to move. Speaking became increasingly laborious, and simple tasks became a struggle.

Recently, I was diagnosed with Functional Neurological Disorder (FND) following an EMG test, which appeared normal in my left arm and leg. However, given my family history of ALS and the severity of my symptoms, including breathing difficulties and significant functional impairments, I can't shake off the worry about the possibility of having bulbar ALS. My uncle had a similar clean MRI and EMG results initially, yet he eventually succumbed to respiratory failure type II due to ALS which was found year later when he suddenly collapsed on the ground, he was still able to talk despite being on a ventilator, he was found to have one of type of gene for Als.

I'm torn between accepting the FND diagnosis and seeking a second opinion. I wonder if an EMG conducted on my right hand and leg, six months after symptom onset, could conclusively rule out ALS, especially considering most of my issues are in the bulbar area, which was not tested during the initial EMG. I would appreciate more info about these two concerns

Adding to the complexity, I have a history of GERD and ADHD, both of which were managed well until these symptoms emerged.
I would greatly appreciate any insights, advice, or similar experiences you can share. It's a challenging time, and having a supportive community like this means a lot to me.

I am just afraid I don't want to miss anything to what I can, seeing I was a healthy adult with sudden onset of these things. I do accept and understand the rarity, just the experience of my uncle is what scares me. Currently don't think I have ALS.

Thank you for taking the time to read my story.
How old was the uncle? Which mutation did he have? Are there other relatives affected? What is the status of his sibling who is your parent? If they do not carry the mutation neither do you.

If you want a second opinion get one but be prepared to accept it

Did you have pulmonary function testing? That would definitely show specific findings if you have ALS respiratory involvement. Also a swallow study would be helpful
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