#neuromuscular disease

[bpod-bpod]

Taf1 Made Easier

Knocking out a gene called Taf1 in mice is lethal for males at early embryo stage while females with one knocked out copy of the gene show weight gain and impaired movement – insight and a new tool for investigating the disorders caused by TAF1 mutation in humans

Read the published research article here

Image from work by Elisa M. Crombie and Andrea J. Korecki, and colleagues

Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, London, UK; Centre for Molecular Medicine and Therapeutics at BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Disease Models & Mechanisms, July 2024

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[vikingnerd793]

I walked a mile in one trip for the first time today! And then did some curls, extensions, shoulder presses and pushups.

My symptoms have improved SO much this month even if it's far from perfect. Like yesterday I noticed I had a hard time lifting a lot of things with one hand. Today, not an issue. Starting to understand that this disease just does what it wants day to day and you kind of have to flow with it.

I also have my symptom med timing down. My bedtime/overnight dose is making a HUGE difference as I wake up so much more rested now. This gives me a better baseline for the rest of the day.

I'm really hoping MG continues to settle down. So the two times it's come out previously in 2020 and 2022, it disappeared. Like, maybe some facial paralysis, random mild ptosis and light sensitivity, Maybe some mild diaphragm weakness. But gone other than that. I'm hoping that is the nature of MG for me. It comes and goes and I have to watch for triggers.

I still have ongoing neck weakness that is INCREDIBLY stubborn, but even that is ten times better than it has been.

And again, I'm not even on a short term disease treatment. MG is just naturally calming down for me.

It's a snowflake disease, meaning every person experiences it differently. It seems mine just likes to erupt with major triggers. Just sucks it generalized to my entire body this time.

[flutterbyfairy]

i have a neurologist appointment in about a month that i'm quite nervous about due to previously being dismissed/not having my concerns listened to, so gonna post this to ask for some advice on getting Taken Seriously or if anyone knows things about the type of condition i might have about what i should be asking them to do/test.

might be quite long so putting it under a read more, and tw for medical stuff and doctors being dismissive. also i am So So Tired and therefore not able to think very clearly so apologies if i've messed up any of the medical info about conditions i mention and apologise just generally for the rambliness of my writing.

summary of why i'm going:

bunch of disabling symptoms that have continually progressed over the past 5+ years, including: muscle weakness, fatigue, muscle twitches/small spasms, nerve pain, blurry vision, lack of coordination (have this from autism, however has gotten significantly worse recently so might also be related to neuro stuff). first symptoms were difficulty having my arms over my head (like having to take multiple breaks while putting my hair into a ponytail because i couldn't hold my arms over my head for the like.. three minutes to do a ponytail) and blurry vision (that optometrist has said seems like might be due to a systemic disease because of how variable it is) since i was 13, which was seven years ago. i started getting more impairing symptoms when i was 15, and began needing a wheelchair for anything that required standing or walking for more than 10 - 15 minutes. i'm currently 20 and need my wheelchair whenever i leave the house, i can't leave the house or do things around the house often, i can stand for a max of like four minutes and can't hold my hands above my head for more than like 30 seconds to one minute. pretty much all my symptoms get a lot worse with any exertion.

GP thinks i have myasthenia gravis, but the test for acetylcholine receptor antibodies was negative and he doesn't have the ability to do other tests.

the neurologist has already said he thinks i have functional neurological disorder and that i should do CBT and pysio to improve my functioning (i already know CBT is horrible for me, i'm in other therapy which is good, i've done some psyio before but she just taught me some stretches and that was it, more psyio could be good but it'd have to be with someone who isn't trying to do a graded exercise therapy type thing since i get PEM). he has mentioned doing a spine MRI but this hasn't been done yet. he said he doesn't want to do further testing for myasthenia gravis but i will probably try to get him to agree to doing a repetitive nerve stimulation EMG or something.

i also have scapular winging on the side of my body with worse muscular symptoms which has also caused a lot of nerve pain, and i might also have some sort of spine issues (straightening of cervical lordosis was seen on a CT scan, they said it was probably due to muscle spasms, and i get a lot of neck pain which might be due to that? as well as a ton of back pain along my spine. might have CCI but haven't been tested yet). since it seems like i'm getting some structural changes in areas where i also get a lot of the pain and weakness and spasms i'm hoping if i bring that up the neurologist might maybe look more at organic causes + the state of those structural changes but i dunno.

he did a basic neurological exam in my initial appointment with him and said that i have give way weakness/waxing and waning weakness because when he got me to do the pushing my limbs against resistance i could do okay for a couple seconds but couldn't maintain it. he also said in the letter that i had positive hoovers sign however i am.. very confused by this because from my understanding hoovers sign is mainly looked at when someone has one limb that's at least somewhat "normal" and one that either can't be moved or is very weak, and then the person can't move the weak leg but when asked to push the stronger leg against resistance they push the weak leg down. both my legs are strong enough that i can stand and whilst one leg is a bit weaker they're relatively similar. i lifted and pushed against resistance with both legs so.... i am not sure how hoovers is applicable here? does anyone know why it was applied and if that was correct or if i should be challenging that? he's saying that the give way weakness and positive hoovers are indicators that the problem is "non-organic" and therefore should be treated with CBT and pysio.

i'm not sure what i think is actually going on. i think myasthenia gravis might make sense, but also so could other neuromuscular diseases like a mitochondrial disease or something. also very possible it's myalgic encephalomyelitis (aka chronic fatigue syndrome) but obviously that one is a diagnosis of exclusion so i want to rule other things out if possible. i want to know what's going on so i can have the best chance of being as well as is possible for me. i know CBT is not right for me and whilst some type of pysio could help a bit/prevent some decline (based on past experience i know it won't Cure Me but obviously it can help a bit to build some muscle or maintain range of motion and things like that which are important) if there's other things i can do on top of that i want to.

i've tried to do research to work out the best tests to ask for and i think EMG might be good but also know a normal EMG doesn't typically pick up myasthenia gravis so it needs to also have repetitive nerve stimulation i think?

i can't see a different neurologist at least not anytime soon, so i need to get this neurologist to do as much to help as possible. a social worker from where i get therapy is coming to the appointment to help me so that should be good but i need to work out what the best way to advocate for myself is and what tests are going to be the most useful to ask for.

if anyone has any advice for getting doctors to take you seriously or for any tests i should be advocating for or conditions i should be looking into or anything i would really appreciate it <3 (emoticon description: heart)

[briarpatch-kids]

I got reminded that pneumonia risk is something I have to worry about forever now (neuromuscular disease means I have 2/3 of my lungs and dropping) and it really fucking sucks. It took like 4 days for RSV (a bad cold for most adults) to turn into pneumonia and that's scary as hell. I don't like this.

[cbphysiotherapy]

[praiseinchains]

Gratitude Journal Entry (7/27/24) - Late Post!

Today I’m Grateful For:

*The Percy Jackson/Heroes of Olympus series. Unfortunately, I made the mistake of purchasing the complete ‘Trials of Apollo’ series before reading the first book. I loved the Percy Jackson/Heroes of Olympus series so much that I thought this series would be the same, but it’s just a travesty and I wish I’d never read it in the first place. Now, because I spent actual MONEY on them instead of waiting for free deals through Bookbub I went ahead and read the whole series just because there was nothing else to do with them and I’m OCD like that. It’s really a pain sometimes.

*My mom and I went to town yesterday to shop but beforehand we stopped off at our favorite bakery. I was going to get lemon curd cupcakes (my favorite!) but unfortunately, they were out, so I got chocolate chip cookies (my favorite cookies). I’d never had them there before, and they are REALLY good!

*My new walker. We went to Walmart yesterday to get stuff for lunch today and I got to use my new walker. My mom and I went our separate ways. I decided to go to the back since that’s where I always have the most trouble (the lighting is different there and it always makes me really dizzy) and because I was looking for something for my laptop. Having the walker actually helped. Things still seemed a bit distorted, but it didn’t freak me out as it normally would have. The only trouble I had was halfway back to my mom, my legs began to get weaker – almost to the point that I was almost dragging them. I have a neuromuscular disease and unfortunately that causes my legs to become weak at times. On the whole, however, I felt like the walker helped and I’m excited for the next time we get to go to another store :-)

Something I’m Proud Of:

Recognizing something to be proud of each day is really challenging, but I’m proud that I acknowledge there are things I’m proud of and that I take the time to identify them, even if they’re small.

Tomorrow I’m Looking Forward To:

My mental reset day :-)

[disabled-not-inconvenienced]

Calling the center of excellence Monday. Mentally preparing myself to fight for the care I need. 🤞

[ameliasmith8826]

Neuromuscular Rebalancing Therapy is a method that focuses on repairing the problems of posture. Not only does it correct posture issues, but it also betters the alignment of the posture. When we are standing, sitting, shifting, and doing any movement, we talk about our posture. But, posture problems have increased by a high number. Many daily life activities are responsible for posture problems like: having a lifestyle where you only sit for eight hours, doing the same movements again and again, and if muscle balance is disturbed

[milkyphil]

How is one with a hand disability to communicate with a deaf person? Today a delivery driver was deaf and he asked me what my unit was since I was outside. He showed three on his hand but it’s not like I could show three then thumbs up, which is what felt like a natural response. Though if I was able to do that in the first place I would have learned ASL a long time ago.  I could only nod my head yes. Which wasn’t the easiest to see since I was also holding my large dog. The situation was also not helped since there is semi truck unloading right in front of my apartment so he couldn’t visually see what my apartment number was in the first place. Any ideas for things I can do the next time a similar situation occurs?

[inkstainedfairy]

Ortho basically said no need for injections or surgery. Noted early signs of degenerative disc disease, and possibly early arthritic changes in my neck. Lumbar unremarkable in today’s x-ray.

Didn’t give me much else as far as recommended treatment other than exercise and diet.

Back to being in limbo again…

[bpod-bpod]

Nerve Meets Muscle

Aligned muscle fibres surrounded by innervating motor neurons forming functional neuromuscular junctions grown from human pluripotent stem cells creates a model for studying neuromuscular disease and drug targeting

Read the published research article here

Image from work by Alessia Urzi and colleagues

Stem Cell Modeling of Development & Disease Group, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Nature Communications, December 2023

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[vikingnerd793]

Man, even just an upset stomach flares my MG. Wild. Gonna be a "game from breakfast until bedtime" day. Hey, at least I can do that.

I wonder if all autoimmune diseases flare this easily. I am sure they do.

[slayerchick303]

I had an MRI earlier today. I HATE that masc medical professionals don't listen to me. I immediately told the nurse who brought me back, then the tech that an IV wouldn't work anywhere but my hands. The female nurse listened, but the masc phlebotomist wouldn't.

He stuck me SEVEN times everywhere I told him not to. Every time he insisted on trying to put an IV where I told him it wouldn't work, I'd bring up my hands again, so it's not like he could have forgotten about them.

On his 8th attempt (the last try he was allowed before sending me home), he finally went to where I initially told him to on my hand. And what would you know? Fifteen seconds later, I have an IV. (Fifteen seconds is not an exaggeration)

I made a passive-aggressive comment when he got it. I said, "Wow. It's almost as if I knew it'd only work in my hands." He didn't respond.

When he complained around other techs that they were running 30 minutes behind now (he wasted over 20 minutes on not listening to me about the IV placement, and they were already 10 minutes late calling me back for my scan) as I was transferring from my wheelchair to the MRI machine. I said, "We could've saved a lot of time if you'd gone straight to my hands for the IV like I said."

He got an irritated look on his face. It was clear to me that he didn't plan on telling his coworkers that he'd gone against my instructions, and that's what caused the extreme delay.

It'd taken him so long that I couldn't even go to the bathroom before my scan as a result. I spent my whole MRI needing to pee because he was too proud to freakin' listen to someone else.

I have a high suspicion that it had to do with me being femme-presenting and a wheelchair user. The fact that I'm disabled should've inclined him to listen to me! I know my body. I've spent my entire life in hospitals. I've had a thousand IVs, and I know what will and won't work.

And, of course, there's the whole misogyny aspect. They've done studies that show that masc medical professionals are less likely to listen to femme-presenting people... even if those people also work in the medical field. This jerk had to treat me like a pin cushion and risk me not being able to do the testing at all just to spare his ego!

I'm really proud of myself for calling him out. Once upon a time, I wouldn't have. I would have let him walk all over me and apologized to everyone for the fact that he didn't listen to me.

I guess being away from people who made me feel like I needed to apologize for my mere existence and that I'm a burden to everyone around me just by breathing has finally allowed me to grow a spine.

[briarpatch-kids]

Oh shit happy 2 year anniversary to the time I got misdiagnosed with "even if you go to the Mayo Clinic or one of the other big experimental university hospitals they probably won't be able to figure you out."

One month later, I found out they misinterpreted my muscle biopsy results and I actually had mitochondrial myopathy, a type of muscular dystrophy/neuromuscular disease, so I basically got the meanest April Fool's prank ever by the universe.

[simonh]

Dystrophin Abnormalities in Neuormuscular Disease by National Library of Medicine Via Flickr: Series Title(s): NIH director's Wednesday afternoon lecture series Contributor(s): Kunkel, Louis M. National Institutes of Health (U.S.) Publication: [Bethesda, Md. : National Institutes of Health, 1990] Language(s): English Format: Still image Subject(s): Neuromuscular Diseases, Dystrophin Genre(s): Posters Abstract: Predominantly gray poster with red and white lettering announcing a lecture given Nov. 1990 by Louis M. Kunkel, Ph.D., prof. of genetics at Harvard Medical School. Visual image is an abstraction of the myosin and actin filaments of a sarcomere, depicted with yellow and gray rods. The first iteration shows the rods in a close formation, as in a normal, contracted muscle; they become separated by greater distances in the iterations below. All text near bottom of poster. Extent: 1 photomechanical print (poster) : 72 x 43 cm. Technique: color NLM Unique ID: 101449377 NLM Image ID: A030719 Permanent Link: resource.nlm.nih.gov/101449377