spuriusX

[spuriusX @Spuriusx]

Seeking neuromuscular / neuroimmunology help.
My 74-year-old father has a clinical ALS picture (mixed UMN+LMN, bulbar, diaphragm failure, rising NfL, no conduction block). Breathing: FVC about 50%, CO₂ retention, nocturnal desats; he is on NIV. Short standing ends in sputtering.
From early in the course he has also had axial / spinal pain, severe sicca, small-fiber burning, whole-body chills, a thoracic girdle sensation, photophobia, perioral trigeminal neuropathy (tingling facial “mask,” not classic neuralgia), parotid swelling and pain, and proprioceptive loss. His team calls this atypical for isolated ALS.
Ro/La, ANA, GM1, and a commercial paraneoplastic panel are negative. Lip biopsy pending. No CSF or contrast root MRI yet.
Looking for clinicians or papers on ALS vs neuro-Sjögren / sensory neuronopathy / autoimmune MND overlap. Not shopping for a miracle. Need a tighter differential.
#ALS #ALSmimic #Sjogrens #NeuroSjogren #MND #TrigeminalNeuropathy

[spuriusX @Spuriusx]

@HealthUncensord I am pretty certain that he did not.

[spuriusX @Spuriusx]

Seeking neuromuscular / neuroimmunology help.
My 74-year-old father has a clinical ALS picture (mixed UMN+LMN, bulbar, diaphragm failure, rising NfL, no conduction block). Breathing: FVC about 50%, CO₂ retention, nocturnal desats; he is on NIV. Short standing ends in sputtering.
From early in the course he has also had axial / spinal pain, severe sicca, small-fiber burning, whole-body chills, a thoracic girdle sensation, photophobia, perioral trigeminal neuropathy (tingling facial “mask,” not classic neuralgia), parotid swelling and pain, and proprioceptive loss. His team calls this atypical for isolated ALS.
Ro/La, ANA, GM1, and a commercial paraneoplastic panel are negative. Lip biopsy pending. No CSF or contrast root MRI yet.
Looking for clinicians or papers on ALS vs neuro-Sjögren / sensory neuronopathy / autoimmune MND overlap. Not shopping for a miracle. Need a tighter differential.
#ALS #ALSmimic #Sjogrens #NeuroSjogren #MND #TrigeminalNeuropathy

[spuriusX @Spuriusx]

@NeuroSjogrens We were told as recently as this morning by a hospital neurologist that he is not sure if it can be done in the hospital. I have asked for help getting it done multiple times now. This neurologist is going to look into medications for neuropathy relief.

[spuriusX @Spuriusx]

His John's Hopkins Neurologist sent a referral for a Lip Biopsy. His position is that it's ALS until proven otherwise, which is reasonable. Without evidence of a condition like Neuro Sjogren's, I don't know how to get any Doctor(s) approve treatment such as IVIG or immunosuppression.

[spuriusX @Spuriusx]

Thank you so much for this! I have seen this study, and it's part of why it's important for Neuro Sjogren's to be definitively ruled out. I've made the case to the Neurologists here and they agree with my summary of possible diagnoses: 1. ALS with a series of atypical symptoms 2. ALS along with a new disease(s) producing those atypical symptoms 3. A disease(s) producing a rare MND like presentation along with the atypical symptoms. The Neurologists agree with my assessment, but when I ask for a Lip Biopsy (which can be done bedside), they will not comply. We are at the hospital waiting for a G Tube procedure and breathing machine training, and this would be an ideal time for a test such as a Lip Biopsy.

[spuriusX @Spuriusx]

@HealthUncensord Thank you for all of this! I am investigating this now!

[spuriusX @Spuriusx]

Neuroimmuno/AI Neuro has not been onboarded. I have been able to get hospital Neurologists to agree with my framing of the case, but none are willing to investigate the atypical elements beyond the the current diagnosis. I am trying to work to help with the current breathing and nutrition issues in order to develop a long term plan since the hospital staff has so far been uninterested in my arguments. Can you recommend any good Neuroimmuno/AI Neuros that could help with this case?

[spuriusX @Spuriusx]

@NeuroSjogrens The only Rheumatologist we have seen so far said that he does not believe seronegative Sjogren's is real, and that he wants to help, but he cannot help with something that he does not believe is possible.

[spuriusX @Spuriusx]

Thank you. Honest answer on treatment: no neuroimmune trial yet. Working diagnosis is sporadic ALS (mixed UMN/LMN, no conduction block, rising NfL). Ro/La, ANA, GM1, commercial paraneoplastic panel negative. Lip biopsy scheduled mid October, I can't get anyone in the hospital to help us get one sooner; no CSF and no contrast root MRI yet. Team is treating breathing and nutrition first (NIV, likely PEG). They have not been willing to treat empirically without a tissue or CSF anchor.
What would help this week, if you are willing:

Names of clinics that actually see seronegative neuro-Sjögren / autoimmune MND overlap (not general rheum).
The 3–5 papers you would hand a neuromuscular attending who already thinks this is ALS.
Whether you would prioritize CSF + contrast ventral roots now, while the biopsy is pending, or wait on the lip.

[spuriusX @Spuriusx]

Need:
1. Centers that see seronegative neuro-Sjögren / autoimmune MND with this mix: motor-neuron phenotype + early spinal pain + trigeminal neuropathy + gland swelling + chills + proprioceptive loss + early diaphragm failure
2. Papers for a neuromuscular attending this week
3. Whether CSF + contrast roots is the right next pair while the biopsy is pending
4. How you separate ALS + incidental spondylosis pain from root / cord / ganglion disease when NfL is high and EMG looks like MND
5. Whether painful parotid swelling belongs with gland disease, not only the ALS clinic

[spuriusX @Spuriusx]

Timeline (abridged): • Jan 2025: right-arm injury, then progressive right-arm LMN loss
• Mar 2025: systemic illness; he dates a lasting change in his legs to that window
• Spread: legs, trunk, speech/swallow
Breathing now: FVC ~50%, elevated CO₂, nights often 93–95%, NIV (Astral), 2–3 min supported standing → sputtering, constant repositioning to breathe.
Atypical from early on (not late add-ons): • Spinal / axial pain from early in the course (neck and back), alongside the motor decline — not only “I can’t hold my head” later
• Sicca; voice/swallow better when the mouth is wet
• Chills and freezing spells, often with burning or panic
• Perioral / facial trigeminal neuropathy
• Parotid / salivary-gland swelling with pain
• Photophobia, felt thoracic girdle
• Proprioception: poor position sense, “standing on lumps,” balance worse than strength alone
Imaging/EMG: • Cervical/thoracic MRI: degenerative change, right-predominant foramina; no cord lesion that explains the whole exam
• EMG: active + chronic denervation, multiple regions, no block
Still open: lip biopsy, LP, MRI spine with contrast for ventral roots, C9orf72.

[spuriusX @Spuriusx]

@alsassociation @iamalsorg @NEALSConsortium @SjogrensOrg @AANEMorg @MGHNeurology

[Nate Silver @NateSilver538]

But it also doesn't feel like the center is holding. I'm not sure whether it's Bluesky or something else, but the progressive epistemic bubble is getting really bad.

[spuriusX @Spuriusx]

@Andrewnsnyder https://t.co/QcsUaIyp8C



[Elon Musk @elonmusk]

Kardashev 1 or you’re not even trying

[Sean Davis @seanmdav]

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