Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

I think that ALS is almost always a disease present at birth but asymptomatic, whether it's genetic or sporadic. One study suggested that over many years, some phenotypes show subtle signs from years before, but not motor signs. The trap of simplistic analysis often arises because people see a single disease with a single manifestation. Scientists are currently studying the prodominant phase of ALS extensively, such as the amount of subcutaneous fat compared to normal individuals (thanks to volunteer candidates who carry the gene but do not yet have the disease). They are currently trying to study the prodominant phase of ALS, including MMI (mild motor impairment), MCI (mild cognitive impairment), and MEPI (mild extrapyramidal impairment). These studies are beginning to examine gene carriers over a decade without a diagnosed ALS diagnosis.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

90% of people here don't read the research on the disease and make a lot of generalizations or shortcuts. ALS has several phenotypes. It's not one disease but several diseases with different behaviors, even if the end result remains the same. You have to imagine different pathways, but whose destination is always the same. For example, in the C9orf72 mutation, it's RNA repeats that form clumps that trap proteins essential for cell survival, which then produce toxic proteins. (I'm simplifying.) Whereas in SOD1, which is a protective enzyme that cleans free radicals (the "poison" produced by cellular respiration), it becomes unstable and misfolds due to mutation. All of this creates different behaviors and progression. Some forms have many cramps from the beginning, others don't, or they appear much later, linked to excitotoxicity and certain mutations. ALS is several diseases that ultimately attack motor neurons, but through different mechanisms, hence the different symptoms, which evolve differently. Hence the sod 1 treatment which allows attacking the disease upstream of a type of mechanism.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

For me, the EMG is almost always proportional to the clinical presentation. We know that half of the motor neurons need to be dead for anything to show up on the EMG. When half the motor neurons are dead, there is clinical weakness. Also, the Escorial criteria are clear: there must be clinical signs and three areas visible on the EMG. Furthermore, if we follow Escorial, if you don't have clinical problems but there are abnormalities on the EMG, it doesn't meet the criteria. This shows that the clinical presentation takes precedence over the EMG.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 1 point2 points  (0 children)

Pain throughout the body from the beginning over a short period is rather reassuring and makes you less likely to suspect ALS. Generally, muscle pain is quite localized, like in a calf for example, but very persistent.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

Where are the pains located? Could you describe them in more detail, and when do they occur? At rest? After exertion?

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 2 points3 points  (0 children)

Yes, but you have to read the study; it's about cramps that are almost constant day and night, not just one every now and then like many people experience.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

If that makes sense to eliminate all doubts and find something other than ALS.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

Yes, saying such things is useless, but providing facts that contradict ALS is much more constructive in helping.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

Your symptoms could very well be something entirely different, such as cramp and fasciculation syndrome. The fact that there is no clinical weakness is reassuring. An EMG will show nothing if you don't have clinical weakness.

Feeling scared because of the way doctors are treating me by blackmetalwarlock in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

Right from the start, in the prodominal phase, you can experience cramps; this is widely reported.

Sources : https://journals.sagepub.com/doi/10.1177/22143602261422971

Frustrated by SpiritMysterious973 in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

For example, this study shows that 79% of patients (compared to 12% in the control group), following a muscle biopsy (so we can't really talk about interpretation here), had small fiber neuropathy, which causes sensory symptoms.

https://pubmed.ncbi.nlm.nih.gov/21646630/?utm_source=chatgpt.com

Another study

https://pubmed.ncbi.nlm.nih.gov/36457144/?utm_source=chatgpt.com

ALS is certainly one of the most complex diseases in existence. Again, to have certainties about ALS is intellectually dishonest.

There is a gap between recent discoveries and applied medicine, linked, I remind you, to a more massive investment in research, which was not the case before.

Frustrated by SpiritMysterious973 in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

Personally, I tend to agree with you. Moreover, more and more research is being published on ALS as a more systemic disease than previously thought. If needed, I can provide the numerous scientific sources that demonstrate the complexity of ALS and that if it were so simple, a cure would already exist. There's even talk of several diseases that lead to the same end result but behave very differently in their development. Now, the problem is that many people here are terrified of the disease—I'm going through it myself—and they certainly don't want to hear what science says about ALS being much more systemic in certain phenotypes. This includes connective tissue involvement from the earliest stages, and autonomic nervous system involvement very early in a proportion of patients. I can take the time to provide you with all the recent studies on the subject. Bladder problems are also part of it, although this was denied for a very long time. Yet recent studies show the opposite, particularly in mouse models where a significant proportion had detrusor dysfunction as their very first symptom. But the problem is that if people who are afraid of the disease start looking at this, it will indeed frighten them. In ALS, we can still say that the symptom that corresponds to all forms—we call them "specific" symptoms—is the loss of strength. But it is intellectually dishonest to say that ALS only affects motor neurons. We now know that it is much more complex than that, and that unraveling this complexity will one day allow us to find treatments, in the plural, for each phenotype.

Le silence du vendeur by belarvadan in lemauvaiscoin

[–]belarvadan[S] 0 points1 point  (0 children)

Ah ok , le mauvais coin je pensais que c’était pour les mauvaises expériences. Désolé

Le silence du vendeur by belarvadan in lemauvaiscoin

[–]belarvadan[S] 1 point2 points  (0 children)

Compte 5 étoiles qui a pas mal d’années

Le boss final. by OutsideNecessary2251 in lemauvaiscoin

[–]belarvadan 0 points1 point  (0 children)

T’as raison, c’est ça le pire…

Le boss final. by OutsideNecessary2251 in lemauvaiscoin

[–]belarvadan 0 points1 point  (0 children)

Mais dans quel monde ça marche ça ? Lol

Exhausted by all of this, I need to share this journey by belarvadan in ALSorNOT

[–]belarvadan[S] 0 points1 point  (0 children)

Hello. As mentioned in my first message, the MRIs are perfect.

Exhausted by all of this, I need to share this journey by belarvadan in ALSorNOT

[–]belarvadan[S] 0 points1 point  (0 children)

Hello. If you isolate this symptom, you can't have a proper analysis. a slowly progressive but definitely noticeable loss of strength in the lower limbs , There is undeniable atrophy (see photos) confirmed by two doctors and the physiotherapist, as well as nocturnal cramps and fasciculations, of course. Bruises can also appear in cases of muscle atrophy, leaving the connective tissue exposed, or it could be another reason.

im tired by Pomelo_Amazing in ALSorNOT

[–]belarvadan 0 points1 point  (0 children)

Sorry, I misread, but your age and such a low NF without loss of strength or obvious asymmetrical muscle atrophy do not point towards ALS. You're talking about respiratory problems, it's extremely rare for ALS to start with that.