My husband might have ALS

[L4dybugg]

Hello all I am a newbie here, My name is Lori and I am 41. my husband Andy also 41, is having ALS symptoms. My husband had a first cousin to die form ALS at the age of 34.

To start off with, we went to our family doctor so they could refer him to a neurologist. They took a lot of blood work at the family doctor, and blood did not come back good, his liver enzymes was extremely high. So they took it again, and it was still high. Well to make a long story short, He goes to the neurologist, and she done the physical testing on him, and his whole right side is a lot weaker than his left. He is right handed so this is not good, should be stronger. She done more blood work ( B12, a CPK and Aldolase blood test) and again tests not good, his liver enzymes was still high also his muscle enzymes came back very high. So the first testings she did was a brain and neck MRI, that turned out good. So she set up an appointment a week later dr did EMG & NCV test.

The EMG & NCV findings where as follows:

All nerve conduction studies were within normal limits. All F wave latencies were within normal limits.
Needle evaluation or the right AnTibialis muscle showed increased insertional activity and slightly increased spontaneous activity. The right MedGastroc and the right L5 Parasp muscles showed increased insertional activity. All remaining muscules showed no evidence of electrical instability.

Impression: Normal Nerve conduction studies of the right upper and lower extremity. No evidence of neuropathy. No evidence of myotonia on EMG of the right upper and lower extremity. Mildly increased insertional activity in the muscles of the right lower extremity with normal, to small sized motor unit potentials. This is a non specific finding, but in this clinical setting may suggest a mild myopathy. No evidence of motor neuron disease/ALS by todays electrodiagnostic testing.


So the Neurologist told him he would have to do a muscle biopsy. So we had to go to another Neurologist that does surgeries, and Andy had the muscle biopsy 2 weeks ago. The surgery went well, they did a 3 1/2 cut on his right upper quadricep. They told us it would take one month for the results to get back.
Well we go to back to the surgeon yesterday to check incision. Biopsy results are now back here are the results:

Final Diagnosis: Chronic denervation and reinvervation.


Here was the microscopic description: Frozen and formalin-fixed sections of skeletal muscle are stained with H&E. Frozen sections are stained with Gomori Trichrome, oil red O, PAS, SDH, ATPase ( ph 9.4, 4.6, 4.2) NADH (DPNH), COX and acid phosphate. These show preservation of fascicular architecture without perifascicular atrophy or increased connective tissue. There is mild variation in fiber sizes due to scattered atrohic, angular type I and II fibers. The NADH reveals no target fibers. Internal nuciei are not increased. There is no no chronic or acute inflammation and the Gomori stain reveals no definite rimmed vascuoles. SDH and cytocrome c oxidase reveal no definite ragged blue equivalents or negative fibers. ATPase histochemistry reveals collections of type I and II fibers touching on all sides and more than 13 touching type II fibers. PAS and ORO reveal evidence of excess storage product. Acid phosphatase activity is not increased.

I'm not sure what all that means, maybe someone in here might have and idea what this all means.

 

[wright]

First I want to say that I'm sorry you have to be here

Could you be more specific about the spontaneous activity they found in his two muscles? The different types of spontaneous activity are: positive sharp waves (PSW's), fibrillations (fibs) and fasciculations. Which of those did they find . . . and what value did they give them? PSW's and fibs would indicate acute denervation. Fasciculations by themselves don't mean much unless they are accompanied by the PSW's and fibs.

You said the report also indicated a decreas in motor unit potentials (MUP's). That is an indication of myopathy. If the MUP's were increased and polyphasic, that would indicated chronic denervation. It even says on the report that they see signs of myopathy. That is what is confusing, because you later state the report says acute and chronic denervation. The EMG (from what you have presented) shows no signs of chronic denervation.

Did they only do the EMG on the right side of his body?

The muscle biopsy also shows signs of acute denervation and/or myopathy. I saw nothing about fiber type grouping (which is a sign of chronic denervation/reinnervation). So once again, I'm confused at the report indicating chronic denervation.

The report does say that there is no evidence so far of motor neuron disease. Why then do you think your husband has it?

Could you give us some background on his symptoms and how they have progressed?

Is he having any type of sensory symptoms (e.g. tingling, neuropathic pain, numbness)?

 

[crystalkk]

Hi,
I 'm also sorry that you are here,

What were the results on the B-12, CPK, and Adolase. I'm not a dr but from what i read A high Adolase is only seen in muscle disease not nerve disease.

And as Wright said the Emg is pointing towards a myopathy.

What did the nuero say about the results of the the biopsy.

 

[L4dybugg]

Yes it is confusing, I don't know any more info other than what I typed there, that is all they have on the reports.

Several years ago my husband had an emg and they did it all over his body it showed nothing abnormal.

The dr found my husband on physical exam, a few months ago, his whole right side is weaker than his left, so this time they just did the Emg on that weaker right side.

The symptoms my husband has been having started several years ago with twitching, and pain in the arms, and legs the more he uses his arms and legs, the worse the pain gets, each time he uses his hands, working, for example using a screwdriver, his whole arm will start shaking, trembleing. Also he would drop things alot. That went on for a while then to get up to date, he is in more pain, biting his jaw, very very tired, getting chocked and strangles easy on his food, now he is falling on that one right leg, it just gives out now. Things are taking longer, and are harder for him to do. He has alot of stiffness now, especailly in his neck, and he is finding it harder for him to keep his head up. Now he is staying nauseated. And all of those symptoms keeps progressing and getting worse over time.

The muscle biopsy said in final diagnosis: Chronic denervation and reinnervation.

 

[crystalkk]

Wright,

Just curious, do you know what this means? PAS and ORO reveal evidence of excess storage product.
It was from the biopsy report.

 

[L4dybugg]

Hi,
I 'm also sorry that you are here,

What were the results on the B-12, CPK, and Adolase. I'm not a dr but from what i read A high Adolase is only seen in muscle disease not nerve disease.

And as Wright said the Emg is pointing towards a myopathy.

What did the nuero say about the results of the the biopsy.

I'm not sure about the blood work one of them came back as High muscle enzymes. Don't have the numbers yet. We are waitng to go back to dr when she calls.

 

[L4dybugg]

Wright,

Just curious, do you know what this means? PAS and ORO reveal evidence of excess storage product.
It was from the biopsy report.

No I don't that is why I'm posting here, hoping maybe someone else might know.

 

[L4dybugg]

Sorry Crystal you were asking Wright, I miss read it. lol

 

[wright]

What kind of pain is your husband having? Is it muscle spasms . . . muscle cramps . . . burning pain . . . stabbing pain . . . ?

You say it gets worse the more he uses the affected limb: does it immediately go away if he stops? Does he have the pain at rest?

I just looked at the muscle biopsy report again and I see that they wrote "groups of fibers touching" which could mean fiber type grouping. Typically it is more explicitly stated but many times labs have different terminology and lingo. If that is the case, then that would be evidence of chronic denervation / reinnervation.

I would call them again and ask them if they have any type of diagnosis.

 

[L4dybugg]

My husband said that it is like cramps, and then at times like aches. Pain does ease off some after he stops using hands, arms and legs. His muscles also jumps or jerks, does it more when he is using them. He also said, it is kinda like when you over work the muscles how it aches. Also the more he works with his hands the more he can't hold onto things, he drops things, and shakes more also. Pain eases off when he stops using them.

He called the dr today to see if she had got the biopsy report, from the surgeon, He got the report first, and she had not received it as of yet, so they had to fax it to her. So she is wanting him to come back in and do more blood work. She said it was not a "muscle" disease. Just told him that today over the phone, so I'm sure she will want to discuss this in more detail when we see her on the 24th.

The surgeon that did the biopsy, (not the same dr) Told us that he had quote "sick nerves" he was not at liberty to discuss more of this to us, because he said it had to come from the other dr. But he gave us the biopsy report. And what I typed above was what it stated.

So I don't know what blood work she will be doing. There has not been any diagnosis made.

 

[wright]

Hello again

It does appear that he has some type of denervating condition (as your neuro put it . . . "sick nerves"). There are many causes for that, so please don't jump to any conclusions.

Was there any mention about his reflexes? Is there anything on the report that mentions "Hoffman" or "Babinski" or "Jaw Jerk" tests?

You haven't said anything about visible muscle atrophy: does he have any . . . and if so . . . did it happen quickly or did it happen slowly? Once again, if so: how long after he noticed weakness did he see the atrophy and how did it progress?

I wish you and your husband well. Keep us informed and ask us more questions if you feel the need.

 

[L4dybugg]

Thanks for your input it is very much appreciated. :-D

No, nothing mentioned about his reflexes, my husband is very muscular, have not noticed at this time any visible atropy. But is it true that that can occur later on?
Nothing was mentioned about those: Hoffman, Babinski or "Jaw Jerk" tests. These have not been done as of yet. Neither has there been a spinal tap done so far.

The symptoms that was listed, have happened slowly over time for several years, and is progressing. With new things that I listed being added as time went by. I forgot to mention that he at times has had trouble pronounicng his words, and trouble swollowing his food, that lead to chocking as I mentioned above. Also he would even get strangled just on his own saliva.

 

[wright]

Weakness will precede atrophy when it comes to all denervating conditions . . . not just ALS . . . so yes . . . you are correct.

If it turns out he has some type of peripheral neuropathy, the bulbar muscles (e.g. muscles of speach and swallowing) can certainly be affected just like the muscles of his limbs and torso.

I'm sure that when he goes to his next neuro appointment, they will give him a very thorough clinical exam and do all the appropriate tests (including the ones I listed).

Have his symptoms ever gotten better . . . or has he steadily gone downhill? Did they happen so slowly that he never really noticed he was getting weak?

You say he is muscular: is he a bodybuilder or did he lift weights? If so, did he ever measure the girth of his muscles so that you would now have something to compare his present muscle size?

 

[L4dybugg]

Well in the beginning his symptoms would come in like spurts, and then die off. That was very early on when we first noticed something was not right. Several years ago. Then as time went by, they meaning the symptoms, started staying longer and lasting longer to where now it is everyday. Now persistant. And more intensified.

No he is not a body builder, but his work that he does, he does alot of lifting, that would keep him built up. He does maintance, that requires alot of different work. lifting working on factory mechines and stuff like that. (He has been tested for metals, so nothing like that, all was normal there, don't have any numbers they just told us it was normal).

No he has not measured his muscle size, (and by the way that is a good thought, need to do that) so we would not really know if he has lost any muscle, at this point. Until it got so bad that it would be noticable.

 

[L4dybugg]

I forgot to add, in the beginning it was progressing more slow, but we have noticed since last year things has speeded up. (all the symptoms listed above) with his newest symptom being very nauseated, loss of appetite. and some weight loss. I guess this could be from those enzymes being too high? Don't know, I know that is not a symptom of als.