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johnny5

Active member
Joined
Jul 22, 2019
Messages
30
Reason
PALS
Diagnosis
10/2019
Country
US
State
FL
I have been referred to the Jacksonville Mayo Clinic to rule out ALS by my local Orlando Neuromuscular Neurologist who deals primarily with MS. After 3 NCV/EMG's that come up abnormal, 2 spine surgeries and the removal of half of my thyroid, he ran out of things to rule out.

My Appt is 16 August. I have weakness and atrophy in both legs, left leg with drop foot was caused by radiculopathy but has gotten worse and contradicts what I should have experienced. I am a veteran also. The VA neurology department wanted to feed me pills so I found another who would try to find the cause of all these fasciculations and the weakness.

I got fasc's in Jan 2017, limited to my L Leg. They started popping in my R Leg shortly thereafter, only very slow. About 8 months ago, they started in my hands, then arms with weakness, the Leg fasc's are constant, 24/7 now. I have to use a cane, and the VA gave me AFO originally, and now a KAFO because my L Knee is weak and kicks out on me when I walk.

In 2016, my brother passed from ALS. He was diagnosed in Oct 2015, and on 6 Jan 2016 he was gone. His progression was very fast. I pray that this is something besides ALS but the situation tells me that its a definite possibility, so I want to be prepared either way. I've been reading up on ALS for most of this year, and am glad I found this website.
 
I'm so very sorry about your brother. From diagnosis until his passing was far too fast. How awful that must have been. Do you know if others in your family have had ALS? I'm not sure about male to male ALS in families as my husband's is sporadic, but there is someone very knowledgeable about familial who may be able to chime in on If this is common or not.

Your symptoms do sound worrying and I'm glad that you are getting seen somewhat soon. The wait can be extremely stressful, so if you can, spend time with family, watch movies or whatever you can to keep your mind occupied.

When you say your EMGs were abnormal, do you remember what the conclusions said? There is an excellent sticky at the top of the forum that can help you with ways to go to your next appointment with questions to ask so you can get the most out of your appointment. Please keep us posted as to the results.
 
Last EMG 22 May :
Needle exam of the listed muscles revealed increased insertional activity with fibrillation potentials and positive sharp waves in the R Tibialis anterior and left tibialis posterior. Otherwise no acute denervation in all other muscles tested. Chronic denervation changes were seen in multiple muscles at best, few noted. No concrete evidence of MND or multiple focal mononeuropathy w/conduction block or other neuromuscular disorder. Clinical correlation is recommended.

Thanks for the pointer. :)
I will read up on that this week.

Nobody in my family has a history, but I really don't know them (Either maternal or paternal) cuz mom was the black sheep :-( and dad had schizophrenia from the time I was 4.
 
I am very sorry for the loss of your brother

As Bestfriends said the results of the emg are important because emgs can be very abnormal and yet not ALS. Your neuro is obviously concerned by the results and your symptoms are concerning too

Mayo will sort it out for you and the resource secyion in the general forum has a post on preparing for second opinions. The better prepared you are the more you will get from the appointment

Most forms of genetic ALS are not sex linked but straight up autosomal dominant. Did one of your parents have a neurologic disease? Or die early? If you do have ALS I expect you will be offered genetic testing. As there are 2 trials currently for specific mutations it would be important to have this done quickly. May I ask how old you are? How old was your brother?
 
We cross posted!

The emg doesn’t look like als but mayo will do their own. Interesting about schizophrenia. It is one of the things associated with my mutation C9 orf72
 
Assessments from 22 May:
Fasciculations-R25.3. unclear cause of frequent, mainly lower, and upper extremity fasciculations. No new motor weakness on exam. Toes are upgoing. Need to rule out ALS.

I did read about a link btwn ALS and schizophrenia. I am a college student (at 60 y/0) and have access to their library online so I get lots of info from there.
 
If you do have ALS I would definitely ask for c9 testing. Your ages and the schizophrenia fit with it. Mayo JX does a lot of c9 research. Leonard Petrucelli, Tania Gendron and Marka van Blitterwicz. And Rosa Rademakers led one of the teams that discovered c9
 
Hi Johnny,

Sorry you find yourself here. I'm glad you got into Mayo. When I went to Mayo/JAX they did the physical exam early in the morning, followed by a ton of blood work (some had been already done but they like their own labs.) The EMG was scheduled for later that day. The NCS part will be done by a technician and the EMG by a doctor but not the doctor who did the exam. Lastly, you will go back to the doctor who did the exam and he/she will go over the EMG and blood work findings. At that point, they might suggest more tests, including a lumbar puncture.

If you do have ALS, they will probably schedule you for a complete pulmonary function test and offer you a clinic visit quickly.

If it is not ALS, they will refer you to other specialists to get to the bottom of it.

I would have all my records printed out and have them with you when you go. Even if all your other providers claim they sent them, it never hurts to have hard copies on your person when you see the doctor.

Please let us know how it goes.
 
Thank you Nikki and Kim for the info. I will use it.
 
One more thing: as soon as you can, sign up for the Mayo's Patient Portal. All of your test results and doctors' notes will be posted there for you to review and/or download. Frequently, because they have their own labs, your blood test results will be posted within an hour or so after being drawn.

Ken
 
You might find this list of reminders for the process useful. I am sorry about your brother, Johnny. As others have said, there is certainly hope in the EMG for something more treatable, so don't let go unless/until you have to.

Best,
Laurie
 
(y):cool:
I will take all of these suggestions to heart. Thank you.
 
Howdy again folks.

Jax Mayo is good drive!! 3 hours each way, but I made it home.

Dr. Shaw said at first it didn't look like I had ALS, but sent me in to do the NCV/EMG still. It was a busy day, he said, and he would call me after he got the results. Initially he told me that fasciculations does not mean ALS (where did I hear that before???). My strength/reflex tests were no different than before. When he called me with the results though, he told me that my EMG results could not be differentiated from radiculopathy from my spine. The denervation/re-innervation signals were showing from my cervical spine as well. He said that he could not tell if they were ALS or very old damage. I told him the damage from my left leg may have been possible, but there was no radiculopathy from the cervical neck. The EMG sounded like a motorcycle. The patterns were very abnormal compared to what I studied up on about EMG's.

Originally he wanted to see me in 6 months, but when he called he said make it 3, and that he wanted to do a breathing test then and maybe redo the EMG. He also told me to do a genetic test for the C9 gene. I have still not been certified for ALS yet, but it is still possible according to Dr. Shaw.
I will try to keep this post up to date soon as I get more info.
 
Johnny, thanks for keeping us updated. I have my fingers crossed for you.
 
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