Is it really ALS? Get a second opinion.

A diagnosis of ALS or any other motor neuron disease (PLS, PMA, PBP, MMN) is made “by exclusion” (no higher probability presents itself) and by published criteria, most critically a clinical neurological exam and an EMG (nerve and muscle testing, administered via mild electric shocks and needles, respectively).

Certain benefits like Medicare, Social Security, private disability and State benefits can all rest on what that final diagnosis is, so it does not good to delay. And, for your own peace of mind, you want a second set of experienced eyes on all the tests and symptoms you have had.

Ideally, seek a second opinion at the ALS center where you would plan to receive initial care if the diagnosis is confirmed. That way, if you decide you like the center, you can continue there, and, if not, you can look further. However, if your center of choice is booked up, there is no law saying that you can't be diagnosed elsewhere.

There is no financial benefit to the center for confirming or disputing your diagnosis; their reimbursement is the same for all the tests and examinations they do, and they can be sued if they incorrectly diagnose you, same as any other clinic.

Check the academic medical centers in your area (universities with medical schools), and with the MDA and/or ALSA, both of which have online lists. To find the closest center, or a few options, see this map (zoom in to see your region).

It is OK to call more than one and go where you can get a second opinion first. You may also pick up cues about where you’d rather be from speaking with staff on the phone. Of course, you can also ask to be notified if a cancellation opens up an earlier appointment.

Centers may be certified by either the Muscular Dystrophy Association (MDA) or ALS Association (ALSA). The ALSA is no longer a national organization; a quarter of its chapters are now independent, with the impact on clinic certification as yet unclear. At any rate, certification of a clinic relates to their supplemental funding only and does not imply better or worse staff, equipment or reputation. For example, Johns Hopkins is an MDA center, but the Mayo Clinic is an ALSA center.

Preparing for the second opinion appointment
First, obtain and transfer complete records from the office(s) where you have been recently, especially the one who diagnosed you. The center may volunteer to obtain these, but double- check a couple of days before the appointment that they have been received or are available online. Normally, the other office is accommodating in forwarding or providing records for a second opinion for this purpose. If your records are electronic, you are able by law to get them in that same form.

Most centers use the Cerner or Epic portals, and you can go into your account with one institution to link your records there to another. If available, that is the fastest way to share records.

Never give up your only copies of any records, no matter how safe they’re assured to be. Get or burn duplicate film of any imaging studies (X-ray, CT, MRI), make your own copies before you bring a set to anyone, even if you are assured “I’ll bring this right back.” Academic medical centers are legendary for losing materials with which they are provided.

Since most ALS centers are in a health system with an EMR (electronic medical record), you should sign up for an account on the system’s portal (ask how when you visit).

Though most provider portals as yet do not display the complete medical record for patients to view online, in the United States, you can link the records of hospitals and systems where you have received care, so they are all available in one place. This is the preferred option so printouts are not being passed around and the information is available to any authorized user.

You are legally entitled to a complete or partial electronic record at any time, requiring that you pay only “labor costs” of digitizing or printing information.

Bring and store
Records and information to bring or make sure the center receives includes:
• Possible diagnoses that you want to make sure are excluded [in your own notebook, separate from your records]. Wait until you are examined and tested before going through this list with the doctor. S/he can easily skim your list.

• Brief chronology about how/when your symptoms began/progressed, and a list of current medications and major conditions (not the place for chronic toenail fungus or childhood fractures). This should all be on one page. Try to provide concrete examples, e.g. not “felt weak,” but “has been unable to use the bathtub since June 2015 due to weakness on standing.”

• Reports and tracings (squiggly lines and tables of numbers) on paper or in a soft copy document) for EMGs and nerve conduction testing

• Labs from the last two years, separately in date order. Imaging reports and CDs or DVDs with copies of the scans themselves, also separately, but going back further than 2y if you have them. Chart notes from the appointment(s) where the symptoms that were diagnosed as ALS have been evaluated.

**Bring printed items in a file folder, rubber banded if needed, never hole-punched or otherwise defaced. ** But, of course, it is preferable to send them electronically so they can be more easily integrated into your record. You can take and send photos of any items that are not available on anyone's server. Most text documents can be converted to PDFs.

Since a new doc may not have immediate access to all your past EMR data, create and maintain a one-page summary of conditions, medical contacts and medications that is in the possession of the person most likely to rush to the ER if something happens to you. Make sure every new office receives one when you show up.

Keep forms and a printout of your records summary on your refrigerator, in your glove compartment, wallet, purse and in your desk if you work.

Arriving at the final diagnosis
Often an ALS center will want to do its own EMG and nerve conduction tests, even though you have had them already. That is to make sure that the latest equipment and interpretation methods are available to you.

So, the “second opinion” process often takes two visits — one to be examined and have tests ordered, one to do the tests and hear results. If multiple tests are ordered, try to time them so you don’t need a third visit to find out results. EMG and nerve testing are done by the center’s own staff.

Unlike tests like CT scans, where you could be harmed by too much testing (CTs produce radiation), re-doing the EMGs and nerve tests won’t increase any known risks, though as you know already, they are uncomfortable.

As always, if you’re not sure, ask what a test is ruling out or meant to confirm. Some, which you may feel free to refuse, are for research purposes only (a spinal tap frequently falls into this category, though not always) and will not affect the diagnosis.

Ask questions like, “What differentials [alternative diagnoses] are still on the table?” “How will we rule these out?” “Is there anything significant that doesn’t fit the picture of ALS?”

If the physician acknowledges that s/he is sure it’s ALS, but your case simply doesn’t yet meet the published criteria, ask if, given the absence of a competing differential, s/he feels comfortable coding the encounter as ALS, so as to document the diagnosis for the federal, State and private company benefits to which you may be entitled.

After the appointment, obtain or make sure copies of all reports and results (labs, imaging, chart notes) are in your portal record. Make sure there is a plan of action — a referral to someone else, getting results to you within a specified time, more tests — and that you know what it is — before you leave the office. If the expected follow-up does not occur, reach out yourself.

If you were diagnosed with ALS by a previous clinician, something is wrong with you. You want to know, after the process completes, what the final diagnosis is, and what’s to be done. Some diseases are so related to ALS that treatment is pretty similar. Others, like multifocal motor neuropathy, have a different treatment, which should be started ASAP.

If you have had two different and incompatible diagnoses, a third opinion is obviously essential. You might visit a second ALS center, or a neuromuscular disease specialist.

"I don't have ALS? But I read that EMGs can be wrong?"
The idea that many people have normal EMGs that later turn bad and show ALS is mostly an urban myth.

The PALS that start with a clean EMG that turns bad have clear, objective neuromuscular symptoms on exam, and a history of cllnical progression —not only their own perceptions — and that's why they get a second EMG. And if they have high muscle tone that impairs their function, but a clean EMG, they may have PLS.

Otherwise, if your clinical exam is decent and your EMG clean, you should move on. If the findings suggest spine damage or arm/hand damage (usually due to repetitive motion injuries, like texting/working/gaming/sitting on your arms), physical therapy will be often be suggested, and you should follow up with that if you want to feel better.

Past that, there isn't an answer for all the mild things, but if something is serious, we can see it. Anxiety and depression make every pain worse. Seek counseling if that is you.

If that something serious is real, but not ALS, that's when you go somewhere else. Though this map lists ALS clinics, these are all reputable institutions that can diagnose other CNS problems. Call the number for ALS and ask for a referral if you're not sure where you fit in, or get your neurologist or other physician to refer you.

Myopathies, myasthenia gravis (MG), brain tumors, MS, and other common mimics are all more treatable than ALS as things stand in 2024.