Bulbar onset

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Kiki123

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Dear lovely Community,
Unfortunately my old thread is closed. I've been lurking around for a while. My symptoms unfortunately progressed, more cramping, stiffness and clonus of jaw + hyperreflexie.
I had mrt, spinal tap and bloodwork, video endoscopy done as well as an emg in December which showed nothing back then.

Now my ENT confirmed via endoscopy that my vocal cords and larynx are partly paralyzed and slightly atrophied which explains my swallowing issues and hoarseness.
I will see another neuro soon. Idk how to behave now.
1.Should I ask him to emg the bulbar muscles as this hadn't been done in December.
2.Is anyone aware of neurofilament light chain test? Would that be applicable?
3. Should I ask for genetic testing since FTD runs in my family?

I'm sorry for posting here again and requesting your advice although since sth is definitely wrong and some of my symptoms match ALS I am very concerned.
Thank you ever so much in advance for your support. It's so great that you help people with anxiety, pals and cals on this forum.

I pray that a cure or at least better treatment will be found soon.
Best wishes
Kiki
 

Nikki J

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Previous thread Bulbar onset after Sauna

tell your new neurologist everything. It is fair to say you are concerned about not having a bulbar emg but let them direct your testing
2 nfl , at least in the US, is experimental. Levels can also be affected by other things even transient head trauma I do not think levels are established to delineate clearly normal and abnormal except for extremes Nfl is not part of the current diagnostic criteria

3 if you have multiple relatives with FTD including a first or possibly second degree relative you can ask about testing. Although ftd shows up in many ALS variants C9orf72 is the major mutation that happens in both FALS and FFTD. Ther are 2 other FFTD mutations that have no ALS link. I don’t know what the criteria for testing may be there. You may need either a diagnosis or an identified family mutation. But sure ask and see what the doctor says

let us know the outcome of your visit
 

Kiki123

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Dec 20, 2020
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Learn about ALS
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00/0000
Country
GE
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IN
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Berlin
Thank you so much for answering all my questions immediately, Nikki. Your advice is really helpful and much appreciated since I felt very insecure and anxious after a long list of doctor visits. I was hoping for NFL as a new biomarker but you are totally right, it seems to be studied here too so I guess it is the best to address the bulbar emg. You're right I'll let them direct the testing. The neuro is an mnd specialist so I guess I'm in good hands now.

Thank you again for your precious time to answer all my questions. I'm glad that this forum exists.
I wish you all the best and let you know about the outcome asap.
Warmth whishes,
Kiki
 

Kiki123

New member
Joined
Dec 20, 2020
Messages
6
Reason
Learn about ALS
Diagnosis
00/0000
Country
GE
State
IN
City
Berlin
Just a mini update especially for other readers with similar symptoms.

The neurologists in my city did just a clinical exam, unfortunately no bulbar emg.
They suspect a dystonia but told me that my symptoms are diffuse and the big picture behind might be identified in the next months. I also had a 2.nd opinion.
The other neuro ordered a CT scan and further nerve and swallowing tests due to the paralysis of vocal cords/larynx.

He suspects a form of polyneuropathy.
As soon as I figure out what it really is I'll update my final diagnosis. Waiting such a long time has made me quite anxious.
If this is true for you too, its important to get help from family & friends or mental health care.
Another huge thank you to others who took the time and answered my thread in the past.
I still hope for a better treatment and whish you all the best.

Kiki
 
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