Alternatives for bulbar ALS diagnosis?

[Research4ACure]

My loved one (male, early-60s) started experiencing mild slurred speech in August of this year and at that time underwent a full stroke work-up that turned up nothing. Since then, his symptoms have progressed significantly and include:

• slurred speech (worse when tired)
• difficulty swallowing (especially thin liquids)
• excess saliva
• choking fits
• potential pseudobulbar affect (more exaggerated laughing/crying, but not necessarily at inappropriate times)
• difficulty breathing (although this symptom could be associated with anxiety about a potential ALS diagnosis)
• hyperreflexia
• limb weakness (mild but got worse after recently starting riluzole)

Besides a positive ANA result (1:40 titer, speckled pattern), slightly elevated lead level, herniated/bulging disks between C2-C7, and what appears to be a cyst in the atlanto-occipital region (to be assessed by a neurosurgeon), the following tests have come back normal:

• neurological testing: EEG, NCS, EMG (including hyoglossus)
• imaging: MRI of brain and cervical spine, CT, PET, MRA
• bloodwork: various thyroid markers, vitamin B12/folate, heavy metals panel, manganese, copper/ceruloplasmin, creatine kinase, West Nile, Lyme, paraneoplastic panel, autoimmune encephalopathy panel (including anti-IgLON5), myasthenia gravis (AChR, MUSK, LRP4)

A neuromuscular specialist at an ALS clinic suspects bulbar-onset ALS, but has not yet given him a definitive diagnosis, and wants to perform a repeat EMG. In the meantime, I'm desperate to find an explanation other than ALS. The rapid progression and initial clean EMG seem inconsistent with this diagnosis. Any insight or advice would be greatly appreciated. Thank you.

 

[lgelb]

Adrenal gland disorders ruled out (ACTH, renin, aldosterone, cortisol levels)?
I do hope it is something else, but if not, we will support you however we can.

 

[Research4ACure]

Thank you so much for the suggestions, and my apologies for the delayed response. Unfortunately his condition is deteriorating rapidly. Speech is significantly worse, mobility is very limited (weakness is primarily in arm and leg on one side of the body). The normal EMG in October combined with the rapid symptom progression just doesn't make sense to me. Symptoms are worst when fatigued and shortly after taking Riluzole doses. A neuro radiologist amended the MRI report and states that the mass in the craniocervical region may be vascular in nature (such as a venous varix) - however the neurosurgeon and neuromuscular specialist do not think it could be causing all of his symptoms. We're awaiting results from genetic testing and autoimmune/paraneoplastic evaluation of spinal fluid from the Mayo Clinic. Any insights would be much appreciated. I'm compiling a list of questions for his next visit to the ALS clinic.