Newly diagnosed FTD - MND (yes ALS)

[drewidia]

This is the one post one should never want to join but glad it exists, a bit nervous to post this but here it goes. (BTW this isn’t everything regarding symptoms, tests, etc., but enough to paint the picture.)

They say hindsight is 20/20.

I’m a 52-year-old male (with a wife who I’ve known for 32 years and 5 kids, aged 25 to 9) whose life changed after contracting COVID-19 three confirmed times by PCR tests and was vaxed to the max (Moderna). What began as "Long COVID" symptoms – daytime sleepiness, brain fog, general cognitive impairment, and general weakness (in the face of maintaining bulk) without large-scale obvious wasting (mine later was determined UMN onset) – evolved into a diagnosis of frontotemporal dementia (FTD) with parkinsonism. The cramps are painful when they strike, lasting a few minutes including hands and feet "locking up," but I’ve had no numbness or chronic pain. They started to suspect an overlap syndrome (FTD-MND) somewhat early on as my progression seemed "odd" for FTD alone, but as you will see, the earlier EMGs weren’t very comprehensive and "not massively abnormal (their words not mine)" – the weird part is I have all these motor issues (UMN was the start for me, not LMN) and I still have a lot of bulk (which is starting to change). The loss of fine motor control, grip strength, and drop foot (heavily right-sided) all seemed odd in the context of FTD alone.

My diagnostic journey was a marathon, taking me through several doctors claiming expertise in Long COVID until I connected with an exceptional care team in December 2023. This team, including cognitive, movement, and neuromuscular neurologists, stopped relying on "pills" and began investigating underlying causes, such as cerebrospinal fluid (CSF) analysis for neurodegeneration. They recognized FTD with features of atypical parkinsonism, including executive dysfunction, apathy, reduced empathy, minor restful tremors, and progressive slowness in movement. CSF testing revealed borderline Alzheimer’s markers, elevated t-tau, low p-tau, significantly reduced abeta42 (<400), mildly elevated GAD65 (ruling out Stiff Person Syndrome), high protein, and other signs suggestive of neurodegeneration. Serum neurofilament light chain (NFL) levels doubled in just over six months, which my doctor said was a clear indication of neurodegeneration. SPECT scans were negative, but Levodopa eased stiffness. PET scans revealed progressive hypometabolism across brain networks, with repeat scans showing expanding affected areas, but nothing conclusive like Alzheimer’s disease or other specific conditions. (spoiler alert) My care team now suspects a TDP-43-related pathology as the common cause, ruling out progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and similar conditions based on neurological exam findings.

In June 2024, concerns about ALS prompted an EMG due to worsening movement issues. The results showed abnormalities (sporadic deltoid transients, tall motor unit potentials, and poor activation) but was ruled as isolated and potentially due to other issues, so they downplayed any ALS and suggested it was CNS-related, functional, or other causes (btw, I don’t blame anyone for the detour as hindsight is 20/20). In August 2024, I developed unstable diplopia, leading to an ER visit (not a stroke). A spinal MRI revealed C4-6 narrowing but didn’t explain my right arm and shoulder weakness or other symptoms. In October 2024, after a fall, I underwent a C5-C6 decompression as nothing else pointed to a conclusive cause, and the focus was on the obvious spinal issue, but it didn’t resolve the underlying problems, though it catalyzed further diagnostic clarity.

By late 2024, my speech and movement had deteriorated further (now termed apraxia), and I needed a walker to prevent falls. MRIs still showed no significant cerebral atrophy. The unstable diplopia, paired with these symptoms, led to a neuro-ophthalmologist who noted slow saccadic eye movements and recommended a single-fiber EMG and repetitive nerve stimulation (RNS) to rule out Myasthenia Gravis (MG). In March 2025, the single-fiber EMG revealed jitter, blocking, and motor unit instability specifically in the frontalis muscle, along with >10% RNS degradation in the arm. Three doctors made their way into the EMG room, seeking confirmation of what they were seeing, with the clinic head doc even redoing some more frontalis EMG himself (joking he was "quality control"). As the test went on, their banter started, with the head guy leaving saying, "I’m convinced," and kept downplaying MG but wouldn’t say a lot more other than, "let us put this all together and I want to see you in clinic." The report included a caveat of "NMJ disorder in the right clinical context," which I think is code for them knowing it's not MG (later confirmed) and early signs of denervation re-innervation. It was clear he knew right from the EMG, but needed additional data points to be certain. Shortly after, an in-person exam appointment appeared on my calendar, followed by a confirming phone call. For the first time, there was a lot of attention compared to a series of dead ends.

The clinic follow-up from the second EMG, involving yet another full neurological exam, happened a few weeks ago, and again, multiple doctors were there (and we aren’t talking low-level med techs). It was a scary but fun visit in the sense that the two main attendings bantered throughout, like asking me to lift my arms and close my eyes, only to hear, "See, right pronator drift," followed by, "Do it again," and, "Yep, I’m convinced." The compassion the head doc showed during the session was clear, and I felt taken care of. Findings included an upgoing Babinski reflex, right pronator drift, bilateral clonic jaw jerk, 3+ pectoral reflex, positive snout reflex, positive glabellar reflex, positive Romberg (backward), and negative Hoffman’s sign, with the right side showing more hyperreflexia than the left. Right-sided stiffness and increased tone were more pronounced than the left, with apraxic movements (slowed thought, speech, initiation, gait, and balance) and bulbar weakness. The apraxia limited the lower motor neuron (LMN) neurological exam, but my neuromuscular neurologist strongly suspected LMN involvement based on the two EMGs. When I directly asked if he thought I had ALS, he responded, "We at least know it’s not MG (albeit we tried the drug, which made things worse, btw), while we order some redo of the genetic testing. I’m less worried about debating what type of ALS this could be and more about getting you the best care – never mind the labels and timing, and let’s focus on the most important thing: you." The initial diagnosis was frontotemporal dementia with motor neuron disease (FTD-MND), with confirmed upper motor neuron (UMN) involvement, emerging LMN signs, and a strong overlap potential with amyotrophic lateral sclerosis (ALS).

Last week, I met with my cognitive neurologist, who specializes in FTD, and received a gut-punch confirmation: I have FTD-ALS. She explained that the "formal process" of diagnostic criteria, including more definitive imaging, is still required, but she was clear about the diagnosis. She noted that FTD-ALS is extremely rare, and started talking about trials as I'm about to get popular. She has only one ever had one patient with this condition and the two neuro docs (musclar and her) are going to tag team as each one understands their areas.

Just this week, I learned that the Invitae genetic testing results have been sent to my neuromuscular neurologist, though our next meeting isn’t scheduled until the end of June. However, I got a call from the Multidisciplinary Clinic (the ALS clinic), and they’ve pulled my appointment forward to Thursday – so I’m guessing we are slipstreaming into a more formal care process at this point. In reality, the ALS is the primary concern, though we need to complete the "formal" diagnostic pathways on the FTD side.

There is a lot still in flight as they are re-doing genetic testing and I’m okay with it given it pays it forward for others. The point of some of the testing doesn’t change the outcome and my wife is annoyed at all the testing still, but I want to add to the body of knowledge. The hardest moment for me came yesterday when my 12-year-old daughter was explaining to someone that dad has plaques in his brain and right now there is no cure, but she hopes they will find one someday (she ‘gets it’ but doesn’t fully understand it).

I personally don't understand all the "clarifying language around possible/probable etc but I’m currently FTD-MND with confirmed ALS (I guess because the FTD showed up first?), and the UMN was the starting point.

The bulbar progression is scary, with speech issues, mucus buildup, swallowing starting to fail, and coughing so hard it feels like I’m coughing up a lung to clear it. The cramps have now spread to my torso (abdominal muscles), the same long, painful kind. I’m also trying to describe the muscle sensation when I push too hard – it’s like a burn pain, similar to benching 200+ pounds back in the day when your arms are about to give out, knowing you’re at full tilt but can’t muster the strength to move. I’ve been told it’s bad to push this far, and the recovery time is long. It’s like an old iPhone that won’t hold a charge and drains fast. PT/OT calls it exertional myalgia with fatigue (kind of like the no pain no gain but at low levels of use), and now in the context of ALS it seems to make more sense.

I will say the doctors I have are quite direct but compassionate one of them even stopped me trying to walk out, waited with me and got me a wheelchair – while they don’t sugarcoat anything. Will update after my next "multidisp" clinic (I refuse to use the word ALS Clinic yet, and they are cool with it). We are in the process of getting a motor wheelchair (they seemed focused on getting me something for more advanced stages), and I am learning quickly that the "social worker" at the multi-clinic is probably the most important resource in the short run as she knows how to navigate the "system." - Unlike FTD, the ALS side of this is VERY VERY organized and my progression doesn't seem to surprise anyone.

We are still processing and are in the hope for the best, plan for the worst stage right now, but as I told the doctors, whatever I can do to pay this forward (genetics) other things. I'm told I'm driving my wife nuts in that I'm unmoved by all of this (as the doc tell us that's the FTD part) but I'm cared for.

I'm sure we will have a lot of questions along the way, sorry for the long note.

 

[Nikki J]

Again welcome but sorry you are here.

A few thoughts the possible probable comment likely referred to the older diagnostic criteria where possible als didn’t really mean there was a doubt it meant als in one area like legs arms or bulbar and probable was 2 areas and definite 3. It was confusing because patients often thought it could be something else but that wasn’t the case.

The newer Gold Coast criteria took that away it is all just called als but some people still use older criteria.

I do not believe the ftd als combination is that rare sadly. On autopsy it is about 35% and clinically 10-15%. People with my mutation have about 35% clinical rate. Maybe her ALS colleagues whose patients develop ftd after als diagnosis are managing these patients themselves so she isn’t seeing them.

I am glad you have the support of your spouse. This will be difficult for both of you but it helps to have a partner to lean on

 

[joemz200]

My wife has the C9ORF72 gene mutation resulting in Bulbar ALS and FTD. Early on the neurologist said that the FTD won't be the bigger of the two concerns, but I think he's wrong. Because dementia is more about personality and human interaction, my impression is that managing dementia is harder and more unpredictable. ALS is worse than terrible, but it doesn't cause behaviors that can change without warning. Over time ALS (and dementia) are going to result in sad sad outcomes, but ALS seems more stable week to week. By no means am I suggesting ALS is easy or preferable, just that with ALS today looks pretty much like yesterday and you sort of know what tomorrow will look like.

From a patient perspective the dementia is, oddly, somewhat of a blessing since my wife is not very aware of the ALS changes, and is not depressed.

 

[drewidia]

Hi Nikki and Joe,

Nikki, your description really hits home and I think mirrors what happened to delay the ALS diagnosis. My FTD brought upper motor neuron (UMN) symptoms and apraxia, with some aphasia, but they always chalked that up to FTD with atypical parkinsonism. It wasn't until the muscle head doc came in after the 2nd EMG looked at me and did some basic neuro tests (saw the Babinskis sign and right drop with pronation etc - easy tests) that we quickly started to unpack this.

I too suspect FTD prevalence in ALS is higher than reported. I suspect there is a stigma around FTD (Dementia) and the "label" in addition to ALS isn't necessarily "useful" as it's more an observation condition not really anything they can do, but in TDP-43 the overlap syndrome becoming more "accepted?". I care about it as getting to cures requires the medical establishment to really knuckle down as tracking and genetic correlation are helped with the right diagnostic codes.

I will say that once I got to the ALS clinic, it became clear that FTD patients are often just observed since there are no specific medications for FTD. My doctors were upfront about my FTD overlap but took a while to make it “official,” - and in reality the care I'm getting includes the FTD management so the label is less important anyway.

Joe, I’m deeply sorry to hear about your wife’s diagnosis. My wife is here with me as I write this, encouraging me to share our experience with bvFTD in hopes it might help. Like your wife, I’m fully aware of my ALS but emotionally detached from it—not depressed, just indifferent, which my wife says is both a blessing and a challenge. When we got the ALS diagnosis a few weeks ago, I was unfazed and even asked about dinner plans right after. My wife was stunned, but that’s the FTD at work—it drives her up the wall sometimes.

My wife wants to emphasize that what you’re calling “unpredictability” might be bvFTD’s rigid, inflexible behaviors. For us, sudden changes or attempts to shift my preferences or routines are tough. Arguments or logical (or emotional appeals) debates don’t work—they just frustrate everyone. Instead, redirection and a consistent routine are key. My occupational therapists (OT) have been lifesavers, helping us build a schedule around my Activities of Daily Living (ADLs). Small, gradual changes work best; big disruptions set me back and I return to more apathy.

Joe, my wife suggests exploring more about caregiving strategies tailored to bvFTD. When she sticks to the “program,” I’m actually quite predictable, but it’s hard for her to stay on track without getting frustrated. When she does trigger me, she leans on her training to redirect, which helps. It’s not perfect, but it’s made a difference.

Most of all Joe, thank you for standing by your wife. Caregiving is tough, and we with FTD don’t always say or show appreciation—it’s hard for us to express emotions—but know that your support means the world, even if we don’t say it.

 

[drewidia]

Our first clinic visit was overwhelming and threw us off. Expecting a two-hour appointment, it stretched past three hours. We met with physical therapy, nursing, speech therapy, and some great ALS/MND resource folks. I thought it’d be quick introductions, but breathing issues hijacked the entire visit.
It began with routine vitals and a breathing test for a baseline. I didn’t think much of it, despite my frequent shortness of breath and daytime sleepiness—dozing off in chairs or mid-task. Every session kept circling back to breathing and swallowing problems. The PA nurse did her exam and mentioned a pulmonologist visit planned for my next appointment. After the speech-language pathologist (SLP) finished and left, I assumed occupational therapy (OT) was up next. Instead, a pulmonologist walked in unexpectedly, followed shortly by another.
The lead doctor explained that my low inspiratory scores raised concerns about diaphragm weakness. They’re switching me from a CPAP to a BiPAP to address nighttime CO2 issues, which might explain my sleepiness, though I didn’t fully follow the details. A debate kicked off about a nebulizer for my mucus-related coughing fits. My wife pushed for it, but I resisted—it’s all too much. They wrote the prescription, but we’re not filling it yet.
We’re back in four weeks, maybe sooner.

That said, I didn't really have high expectations going in but what an event this visit turned out to be.

 

[blh8287]

I'm in similar boat with ALS-FTD. The FTD kinda helping me not stress my super weak breathing muscles and all the other stuff.

 

[drewidia]

Hear Ya, and sorry to hear about your diagnosis.

Yeah, the FTD part kind of is a unique part of all of this in that most of the stuff happening is kind of flat for me too... it's the apathy and lack of empathy - It drives my wife and family nuts but they understand the opportunities it brings and my FTD preceded the ALS by a few years.
I'm pretty calm and even keel - what's "funny" at least to me is people assume you don't understand what's going on because the reaction isn't there...

On the breathing part... I will say I never put the 2 and 2 together on the breathing thing/shortness of breath, but the clinic folks knew what to looks for... and the increasing attacks from thick mucus etc.

If anyone has any explanation on where mine falls it would be interesting to note (the results were labeled as restrictive thoracic disease, RTD) - and they called out my FVC and MIP? Not sure what this means but they did put in %ages.

FVC (Forced vital capacity):

• Upright FVC: 1.52 liters (33%).
• Supine FVC: 1.23 liters (26%).
• Normal FVC for a 52-year-old male I'm told is ~4–5 liters (80–100%).
• They noted the drop >10% between the 2 readings as important and kept harping on my diaphragm. Which seem correlated to the fasics I get in my abdomen and the abdominal (torso) cramps.

MIP Maximum Inspiratory Pressure (inspiratory weakness)

• MIP: -28 cm H₂O (was noted as severely reduced).

I have no gauge for where on the continuum this sits, but the thing I know they were focused on was my diaphragm weakness which was from the lying down part of the test and the Inhalation <--- that one was their biggest focus. Kept talking about CO2 as well... Which led to going from CPAP to the VPAP STA (bipap), nebs and cough device.

Last point: it feels like they are all less "focused" on the FTD TBH as the MND/ALS part fits well into their Gold Coast etc, and my "Feeling" is they want to simplify the care to stuff they know how to address (but occasionally note the "hey with the FTD bit" we find starting the PEG etc. now way before he will need it is really important as when we get to the point (my words) it's going to be a disaster given my FTD ... and a question for a different day - is I'm against eventually getting a tracheotomy so they all seem focused on trying to change my mind. My guess is they will keep grinding on this down the road - and I will eventually ask if AITA for refusing it.

 

[blh8287]

The VA first diagnosed my FTD last year and then immediately referred me to ALS specialist but had to wait until April. With my FTD they classified it as major frontotemporal neurocognitive Disorder.

With my FTD I have no motivation, no appetite, apathy is profound.

Before appointment with ALS specialist they had me do PFT and barium esophagram. The esophagram showed primary striping wave was inadequate and esophagus has tertiary contractions.

I subsequent MBSS showed all kinds weakness in muscles involved in swallowing with minimal penetrance.

The PFT was sitting only because my VA doesn't have supine ability. My FVC was like 74%, but MIP 18% and MEP 27%.

I was subsequently diagnosed with ALS, I also have c9orf72 expansion.

Anyway now I use a Louisa NIV for sleep and a mouthpiece sip and puff during day.

They convinced me to get PEG because bulbar stuff and how weak breathing muscles are. Unfortunately, my stomach is very slow so calories are tough to get adequate calories.

My Louisa is showing my spontaneous breaths are down to 5%. I don't know if that's all on my breathing muscles or the Central Sleep Apnea with Cheyne-Stokes breathing even in restful wakefullness. That whole sleep apnea stuff was diagnosed in sleep study in a lab.

 

[lgelb]

All PALS should be changed from CPAP, if on it, to BiPAP as soon as diagnosed. If EPAP has to be higher than minimum or in a range to accommodate pre-existing apnea, that is easily accomplished with BiPAP, but CPAP can't vary EPAP nearly as much as nearly every PALS needs (at least 4cm below IPAP delivered).

If your spontaneous trigger is only 5%, you're not in very good synch with the Luisa (that means the machine instead of you is starting 95% of breaths, which may sound restful but isn't), and that can definitely be improved with the right settings. Your backup rate and/or cycle sensitivity would be the first variables to look at. PM me if you'd like help.

As for a trach, they are rarely used by PALS in the US, for a variety of reasons. If you're not interested, that should be noted in your chart, but assuredly there is nothing wrong with declining.

 

[blh8287]

 

[blh8287]

These are my settings with Louisa.

 

[drewidia]

Wow, my FTD starting path is very similar - my diagnosis dates back to early 2024 on that part... apathy, weakness, spasticity, (UMN) slowing, word finding (typing isn't same as speaking)... except I had the overeating and sweet tooth - until a radical change a few months ago, and the eat thing went 180 to lack of appetite - a lot to do with dysphagia as they explained.

I never realized that esophageal slowing was a thing and possibly related.. so I just relooked at an XRay Upper GI done (I had a bypass back in 2021) and they noted:
FINDINGS: Esophagus normal in appearance though slight delayed passage of contrast to the
GE junction however, no stenosis, diverticulum or evidence of extravasation. The
gastroesophageal junction is patent. Postoperative stomach is diminutive in size. After an
initial delay, prompt emptying of contrast into the small bowel loops noted. No opacification
of the excluded stomach identified. Small bowel loops measure up to 4 cm. Normal fold
pattern.

Basically the issues is in the esophagus not the emptying of the stomach pouch. Since the focus was elsewhere, they really never were able to explain it (this was back at the end of October 2024)... but with the FTD-MND (ALS) context now it kind of puts that finding in a different light as it was another early "indication" ...

So let me at the $1M question: Is getting the PEG now (as they are discussing) though it's "earlier" than needed the right thing to do?

 

[Nikki J]

A lot of people get their feeding tubes later than they should. If you are going to get one err on the early side. It will be easier on you. Also a lot of clinicians recommend getting one when your breathing drops to 50% even if swallowing is still good. It is possible later - usually with rig rather than peg procedure ( the end result is the same) and sometimes using your ventilatory support
My clinic strongly prefers rig for pals unless there is a reason it has to be peg

 

[JimAtBeach]

What he said! I was first diagnosed with Parkinson's, then Multiple System Atrophy recent PET scan showed large area and moderate damage both lobes. Today they believe it's FTD-ALS.