Advise on if this could be early ALS

[cmiller304]

Hi all, thanks for your assistance. I am a 32y/o male with 8 months of symptoms. Wanted your opinion if this could be als or should be focused elsewhere. This started back in March where I started waking up with morning headaches and eye floaters. Soon I had widespread muscle pain and twitching which was worse after exertion but sometimes still while inactive. By July I began to have shortness of breath even during the day and right hand pain after using it. My bloodwork which was extensive has all been normal. Since March, I have had 3 EMG/NCS tests (one by a regular neurologist, one by Mayo Jax, and one by Columbia ALS center in NYC). Despite my symptoms, all of these were totally normal in every muscle tested - the EMGs didnt pick up anything abnormal, not even any fasiculations. The tests were rather extensive across legs/arms/tongue/hip/paraspinals/thoracic area. Spinal tap was also normal.

None of these symptoms have really improved at all over the past few months - I have muscle pain, twitching, and sometimes short breath. Heart was normal, pulmonary tests were low 80s (not great, but unchanged since June and supine position was only ~5% lower than sitting). My inspiratory and expiratory muscles (MIP/MEP) were ~50-60% of normal. I also had a cardio exercise test which found notable reduced tidal volumes (40% of expected), reduced peak O2 pulse and potential poor oxygen extraction. CK has risen from 79 back in May to 109 in July to 258 now without really any exercise. Otherwise my tests from endocrinologist and rheumatologist have been unremarkable. Is ALS or MND still on the table? Or should I be pursuing a metabolic/mitochondrial cause; it seems similar to lyme but those have been negative too?

Thanks much for your help.

 

[KarenNWendyn]

Definitely not ALS with the pain and the three negative EMGs.

I would suggest seeing a pulmonologist if you have not already. This could be something autoimmune or perhaps paraneoplastic or metabolic. Keep working with your doctors, but you can take ALS off the table. Best of luck to you.