? ALS. Asking for Advice and opinions mid neuro workup.

[Jenksie3]

Hello all. I want to start with a thank you for your time and willingness to educate so many people about ALS. I’d love some advice as I continue to navigate the arduous neurology workup.
The Cliffnote version. 45 yo F.
3/21 dropping curling iron. Negative workup. Inc brain/c&t spine MRI. Stays stable but decreased grip/dexterity persists. 1/22 atrophy to dominant shoulder and deltoid noted by self, pcp, neuro. Negative shoulder MRI. 3/22 lose ability to control over hand ball throwing, underhand bowling. 6/22 increase muscle wasting to R shoulder/deltoid. EMG/NCS to right side. Unremarkable. Start PT. 9/22 PT/pcp/neuro concerned increase wasting to right neck/traps/pec/deltoid. All over fasciculations, muscle cramping, stiffness in my legs and back. Hoarse. Repeat brain/c spine mri. Unchanged. ENT treats for silent reflux. EMG/NCS done by neurologist to left side unremarkable. Noted hyporeflexive but with new significant hypermobility to R>L shoulder girdles. Bilateral shoulder blade winging. Right Arm requires support on arm rests or pillows etc. Strength 5/5 left, 4/5 dominant right. Neuro is baffled. Muscle wasting continues. Her best guess for now is cramp fasciculation syndrome unrelated to the atrophy and hypermobility and slow strength loss. (A combo of diagnosed which seem odd to me.) Referred to the neuromuscular department of bigger hospital downtown and is assuming something might declare itself good or bad between now and my appointment in January. Is this possibly ALS? What should I be prepared to ask about or for at the Neuromuscular clinic? And any ideas what to expect differently in a work up? I tried to keep it brief and think I included the most important stuff. I welcome feedback and questions.
Thanks in advance. Jenksie3

 

[Nikki J]

One would think with your clinical findings if it were ALS the emg would show it. I can see why your neuro is baffled However something is clearly wrong and going to an academic neuromuscular center is the place to get it sorted out. Mgh by any chance?

what to expect / how to prepare. See the sticky on getting a diagnosis. Timeline with bullet points. examples of what you can not do are much more useful than a general statement. You gave some specifics in your post so similar Write it down and also write specific questions. The primary one of course is what is wrong? If they don’t know exactly without more tests what is in the differential? What test do I need to find out

it is common for the super specialists to want their own emgs. Also bring discs of your imaging. Also you may very well be seen by a fellow first or possibly an np. If so they would take your history and do an initial exam. Don’t be surprised. You very likely can share your records electronically on your patient portal even if you are not in the hospital system of the new neurologist. I was able to do this for a new pcp earlier this year from the mgb portal to that of the new doctor

the more prepared you are the more you will get out of the appointment. If you can bring someone to take notes

once you are prepared try to keep busy and enjoy the holiday season. Waiting is very hard but worry doesn’t help as you know

do please keep us posted

 

[Jenksie3]

Thank you so much for your reply. My records are all in the Epic med records and all my docs are in the Partner’s system. A pretty long read at this point. I think it was a toss up for my neurologist between MGH & BWH but she trained at BWH. Do you have reservations re: BWH or feel they’re both high quality for NM issues? I’m currently booked at BWH and I’m pretty sure it’s in the NM fellow clinic. I’ll bullet point and maybe print out my neuro’s bullet list of her workup and add my own points along the way. We all expected the EMGs to declare something. Great reminder on taking a person for note taking. Will keep you posted.

 

[Nikki J]

Brigham is a fine system. If you did have ALS though mgh is where you want to be. it is such a major research center as well as being outstanding clinically. I am of course prejudiced too. However if you have something else Brigham might be THE place and certainly if mgh weren’t across town I would be saying the Brigham is great for ALS because it is. It is good everything is in the mgb system but do bring the physical discs for your mris