Awaiting diagnosis

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Well, we’re still on the roller coaster. My brother is 5 and a half weeks in to his IVIG treatment, and he doesn’t feel a great deal has changed. He is maintaining his weight with a lot of harassment to eat from everybody, but he is thin. He mentioned to me that his hands symmetrically weaken, then appear to strengthen for a few days. He’s also waking up with headaches a lot of mornings. Lung, diaphragm and heart testing reveal no issues, and he is waiting for the results of a CPET he had 3 weeks ago (yes, 3 weeks - go figure😠). His fasciculations continue all over. Given his pulse rate is frequently up over 100 ( they said he was mildly tachycardic) I wondered about respiratory acidosis, as a cause of his shortness of breath. My admittedly uninformed opinion is he should be on Riluzole now, even though he doesn’t have a firm diagnosis, and he should be using a bipap machine overnight in case he’s not clearing co2 overnight, even though blood gases (but not arterial) say his O2 levels are ok. To think I used to get upset when my kids left dirty clothes on the floor......
A belated Happy Thanksgiving to those of you in the US. What a lovely tradition that is.
Best,
S x
 
I'm sorry to hear that the IVIG has not improved his situation. However, if his hand strength is waxing and waning pretty regularly, that suggests something other than ALS.

O2 is not a good marker of respiratory problems in ALS since as you note, it is high CO2 that is typically the problem due to inability to blow it all out. But if his lung function is normal, that is likely not an issue. So that is another reason to suspect another cause for his shortness of breath, headaches and tachycardia, if new for him.

Did he actually see a pulmonologist or just have PFTs done? I would also wonder about seeing a cardiologist.

Best,
Laurie
 
He has seen the respiratory doctor who did the checks on the lungs and diaphragm, and said they were ok. They then sent him off to a heart doctor who did an echocardiogram, which showed no issue. At that point he went for the CPET, which is the result he’s been waiting for for 3 weeks. The respiratory people were able to get blood from the wrist, so he hasn’t had ABG tests to clarify the CO2 level. He has been talking of shortness of breath for at least 6 months, so it’s not new. Not sure about tachycardia, though. Thanks, Laurie. I hope all is well with you.
 
What is a PFT, Laurie?
 
Pulmonary function test? Wow, what a steep learning curve this all is.😕 Now that you ask, I don’t know who he saw, I just assumed it was a specialist.
 
In ALS atrophy comes after the muscle fails. If you see atrophy and you do not have muscle function failure, it's not because of ALS. Atrophy happens when a muscle is in disuse, for example, in foot drop the foot is no longer able to go up on toes or back on heel. Because of this issue of these muscles, the calf muscle starts to atrophy, and from there, the rest of the leg as more and more muscles start to die.
In my brother's latest round of appointments he has been told he has "widespread atrophy", but he has no muscle failure as yet. Are the terms "weight loss" and "atrophy" interchangeable in an ALS context?
S x

Mod note: That quote was taken from another thread. I have moved this post and the four that follow back to Samkl’s thread to keep Samkl’s information together.
 
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No. Atrophy very specifically refers to muscle wasting. This can be associated with weight loss. But weight loss can also be from loss of fat.
 
In my brother's latest round of appointments he has been told he has "widespread atrophy", but he has no muscle failure as yet. Are the terms "weight loss" and "atrophy" interchangeable in an ALS context?
S x
Hi Sam,
Has your brother been diagnosed with ALS? In the context of ALS, atrophy refers to muscle loss, which occurs when the muscles die. As I previously mentioned, without muscle function failure, atrophy would not relate to loss of muscle.
 
He is undergoing an IVIG trial under the direction of his 2nd opinion doctor, who is the eminent head of an MND clinic at a major hospital. However, his original neurologist ruled on the basis of his EMG that he had "anterior horn cell disease" in a clinical context. I was under the impression that EMG findings were definitive, so still assume the diagnosis is right. In the Twilight Zone at the moment.

But I was confused by the mention of atrophy in muscles that are working as per usual. This was from the respirologist attached to the multi disciplinary team at the hospital, so I assumed he'd know his stuff.
 
He is undergoing an IVIG trial under the direction of his 2nd opinion doctor, who is the eminent head of an MND clinic at a major hospital. However, his original neurologist ruled on the basis of his EMG that he had "anterior horn cell disease" in a clinical context. I was under the impression that EMG findings were definitive, so still assume the diagnosis is right. In the Twilight Zone at the moment.

But I was confused by the mention of atrophy in muscles that are working as per usual. This was from the respirologist attached to the multi disciplinary team at the hospital, so I assumed he'd know his stuff.
I would look for a confirmation of widespread atrophy from a neuromuscular specialist, not a respirologist as they are pulmonary, not neuromuscular. If there are no muscles not working, it would be odd to say atrophy. Perhaps he/she was referring to weight loss. But, at this stage, we are straying from the OPs original post and, as such, the answer given to you can also go for the OPs question, but we should continue to focus on the original post.
 
Bestfriends, Samki is in fact the OP, so we're all good. In rare cases, such as the flail arm variant, atrophy can precede weakness, Samki, but not to a widespread extent.

EMG in itself is not considered definitive; clinical correlation is still needed, which is why we always recommend a second opinion from a neuromuscular disease specialist. There is more than one "anterior horn disease," even outside the ALS "family," notably spinal muscular atrophy, which has adult-onset versions, and polio/post-polio syndrome.
 
Bestfriends, Samki is in fact the OP, so we're all good.
Laurie, I had to move the last several posts out of a thread in the DIHALS forum. Hence the confusion.
 
Apologies for the confusion re where I posted, Laurie and Karen.
 
Hi Sam,
Has your brother been diagnosed with ALS? In the context of ALS, atrophy refers to muscle loss, which occurs when the muscles die. As I previously mentioned, without muscle function failure, atrophy would not relate to loss of muscle.

So when, in the following, it says "clinical weakness, atrophy and upper motor signs", the atrophy follows clinical weakness, not that they occur together? Or that even if they are both present, the atrophy followed the clinical weakness?

Symptoms
The major initial symptoms of ALS are clinical weakness, atrophy and upper motor signs detected on clinical exam by a neurologist. Some people may have slurred speech. If you don’t have any of these, why are you here?
 
Usually atrophy follows weakness in MND, but they can also occur together. The first thing the affected person notices is inability to do something such as standing on the toes or heels, difficulty fastening a button or opening a ziplock bag, or slurred speech that others notice. This is failure. The doctor will detect weakness on exam. Once failure occurs in MND, atrophy can often be detected by the physician if looked for.
 
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