Paralysed diaphragm (?)

[spbalazs]

Hello All,

I am 32M. I was diagnosed with BFS over 1.5 year ago.
I am looked after by an ALS specialist and I had 4 EMGs carried out, all were normal except fasciculations. Reflexes are brisk, but "not pathological. "
The ALS specialist is not worried, but the raised CK is "bugging him" and he wants me to come back in 3 months again and do the test again.

It all started with body-wise fasciculations and difficulty breathing, and perceived left leg weakness.
Today I am unable to take a normal breath in if I lean forward or stay in the water to swim, and also I find it difficult to breath whilst laying on my back.
I developed a strange gait, and my friends said I walk like a "penguin".
I have core weakness, and despite regular excercise, I went from being able to do a 100 sit ups in a year, to 5-10.
I also developed minor bladder issues, where I find spots of urine on my pants all the time, even though I make sure everything is cleaned before putting things away.

I had many-many MRIs, CT, countless blood tests, everything is fine, except CK which is between 440-1000, even after 10 days rest, as well as equivocal AcHR blood test 0.63. MG ruled out via SFEMG.
I have upcoming test with a pulmonologist who said I either have paralysed diaphragm or a breathing disorder, with the latter being more likely.

Couple of questions:
-Could ALS start in the core muscle and breathing muscles?
-Could ALS affect the bladder in the early phase?
-I never had a spinal tap. Is it something worth asking for?

Thank you for your time.

 

[Nikki J]

Respiratory onset is very rare (5% of cases) but you have symptoms elsewhere and multiple emgs that were ok.

no bladder issues are not an early symptom of ALS

ask your doctor about a spinal tap. They have your whole history and can tell you whether it would help with diagnosing your problem.

we did ask before that only post when you had new clinical findings so please don’t post again until you have answers from your pulmonologist

good luck

 

[lgelb]

I would make sure one of your many CTs was a chest study, to rule out a thymoma, and that autonomic function has been assessed. As Nikki says, please update after your pulmonology appt.

 

[spbalazs]

I had respiratory muscle strength assessment which came back within the normal range, including MEP and MIP.
There was a 10% drop since last year, but the pulmonologist is not worried.

Because of the positive histamine provocation test, he gave me an inhaler to try first, and if that doesn’t help (it didn’t), he suggested respiratory physio.

There are a few things that makes me think it is something systemic I am dealing with:

- I have developed very frequent heart palpitations, noted by a nurse on an ECG, which I didn’t have last year, so I was given a 24 hour ECG monitor and will have the result soon.
-Speech problems have progressed.
I found it very difficult to finish sentences. I often have to stop halfway through, because the words don’t come out right. I also use the wrong words frequently, and the wrong names for my colleagues.
My colleagues noticed the effort I try to make to speak sometimes ( squeezing my eyes tight and try hard to get the words out)

-I choke on my saliva in bed, and this caused me pneumonia recently.

-My core strength continued to decrease, despite regular, core focused exercises.
I have been tracking performance, and the drop is about 90% vs last year.
I have done HIFEM treatment (magnetic stimulation of muscle innervating motor neurons), this increased my core strength and performance, but it made fasciculations a lot worse.

-My face become very red and people ask me if I have been on holiday. I will also have short times when I have hot flushes, it becomes even worse and my face is like a crab and I sweat.

I have been evaluated for muscle disease, thyroid issues and autoimmune conditions a year ago.

If you could keep this thread open, I will post back once more, when I have had my neuro follow up including CK blood test and my cardio follow up.

I will also ask about autonomic function test, thank you.

 

[affected]

Great news on those test results so far that keep pointing completely away from ALS, and your continuing symptoms point away from ALS even more.
I hope you get a full diagnosis soon. Please do update us once you have that.

 

[spbalazs]

Hello all,

As promised I return after meeting with my neurologist and after reviewing test results together, this is so if anyone followed my posts, or will read them in the future, will see the end result.

In respect of others, I will keep it short.

• My CK levels returned to normal 220, from being in the 1000-440 range over the past 1.5 year.
• My reflex test on examination today "were normal".
• My pulmonary results had no change vs last year, and in the normal range (I was wrong about this before)
• Muscle bulk and strength was normal on examination
• All the 4 EMGS I had over 1.5 year were normal with fasics only

His diagnosis is benign fasciculation/cramp syndrome.

He believes that if I won't focus on health so much, these things (speech, word finding difficulty, perceived weakness and so on) will ease up.
As he is a leading ALS/BFS specialist in the UK, I must believe him.

Thank you for your kindness, time, patience and understanding.

 

[wishmobbing]

Thank you for reporting this to us. I'm glad you found a specialist you are willing to trust. He is totally right in recommending to shift your inner focus away from fasiculations and worry. It's not easy to get away from something, especially since it dominated so much of your last years. So instead of trying to avoid old thought patterns, try to find something you feel happy doing or moving towards. Pleasant distractions and good conversations can help you to not focus on what's worrying you now.
Take care and goodbye!

 

[spbalazs]

Hi there all,

I have just been on a holiday with family, and they (and I) noted that I have a trouble putting words in the correct order. I also frequently find it difficult to find the correct words for things.

In addition they often found it difficult to understand to what I am saying, as the words don’t come out clearly.

I already put my mind at ease that it isn’t ALS that I have although for a while I was very worried about respiratory onset MND.
One of the neurologist suggested FND a year ago, but the ALS specialist I saw recently dismissed that also.

My genetic testing came back 99th percentile genetic disposition for Alzheimerz, but the ALS specialist dismissed that also, especially because of my age (32).

Can I ask, ALS never presents with word finding difficulty combined with pronounciation issues?

It may worth for me to find an FND specialist, since I have no clue where is this all coming from.

 

[Nikki J]

Word finding for ALS ? No FND specialists exist in the UK. I know there are FND groups on FB and I believe one is UK specific. It is worth joining to ask about navigating the NHS to get to an FND expert for a proper evaluation as FND is treatable. Unclear speech has many causes.

 

[spbalazs]

Sorry Niki, are you saying word finding for ALS is a “NO”?

 

[Bestfriends14]

No, Expressive Aphasia is not an issue with people living with a Motor Neuron Disease. The motor neurons are the issue, not the language portion of the brain. In your June 14th post, you stated:
"He believes that if I won't focus on health so much, these things (speech, word finding difficulty, perceived weakness and so on) will ease up. As he is a leading ALS/BFS specialist in the UK, I must believe him."

Exactly. Please follow through with what you have previously written.

Best of luck to you and please take good care.

 

[Nikki J]

Yes that is what I said. See best friends’ more complete answer