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Kennedy disease is caused by a repeat expansion in the androgen receptor gene. think of it like a scratched cd making the same note skip endlessly. 💿🎶 affects males more due to that x-linked pattern. while there's no cure yet, therapies focus on managing symptoms and improving life quality. 💪

https://www.sciencedirect.com/science/article/pii/S0035378716304222

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now let's talk Kennedy disease, aka spinal and bulbar muscular atrophy (SBMA). 🎯 this x-linked genetic disorder affects motor neurons, leading to muscle weakness and—you guessed it—myokymia! it's like the neurons forget how to party properly. time to uncover the genetic twist! 🧬

By Rcborden2 - Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=128877904

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Isaac syndrome often stems from autoimmune shenanigans where the body mistakenly attacks its own voltage-gated potassium channels. 🛡️ treatments aim to chill out the immune system and nerves. Meds like anticonvulsants, immunosuppressants, or plasma exchange come into play. 🧪✨

https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2019.00516/full

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Isaac syndrome, aka neuromyotonia. 🌩️ this rare condition amps up the myokymia volume to 11. spinal motor neurons get overexcited, causing continuous muscle fiber activity. symptoms? stiffness, cramps, and those pesky muscle twitches. but what's behind the curtain? let's find out! 🧐

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EMG time! 🎸 electromyography shows us the electrical jam sessions happening in your muscles. with myokymia, EMG reveals rhythmic bursts of motor unit potentials that look like marching soldiers. 🪱 wild, right? it's like watching a muscle fiber conga line! let's see what's causing this groove! 🎶

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what's myokymia?🤔 it's like your muscles are throwing a mini dance party without an invite! 💃🕺 involuntary, wormy rippling movements often visible under the skin. not usually serious (unlike fasciculations in ALS) but definitely a buzzkill. let's dig deeper! 🕵️‍♂️ (full video/papers in ALT tags)

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https://emedicine.medscape.com/article/1172604-clinical

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Isaac syndrome often stems from autoimmune shenanigans where the body mistakenly attacks its own voltage-gated potassium channels. 🛡️ treatments aim to chill out the immune system and nerves—meds like anticonvulsants, immunosuppressants, or plasma exchange come into play. science saves the day! 🧪✨

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mykymic leg
https://www.youtube.com/watch?v=doPwZGHX9F0

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myokymia on EMG
https://www.youtube.com/watch?v=SXhmV3uYcT0

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what’s myokymia? 🤔 it’s like your muscles throwing a mini dance party without an invite! 💃🕺 involuntary, wormy rippling movements often seen under the skin. not usually serious (unlike fasciculations in ALS) but definitely a buzzkill. let's dig deeper! 🕵️‍♂️ (full video/paper links in the ALT texts!)

myokymia eyelid
https://www.youtube.com/watch?v=xm4e1SQU9Y4

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Type 3: The youngest sibling and the overachiever. 🏆 Fracture extends into the body of C2. It's like a crack in the foundation but with good blood flow. 🩸 Healing chances are better—unlike the Terminator of fractures; it probably won’t be back! 🤖 Less risky than Type 2, surprisingly! 🤔

$Niknejad M, Odontoid fracture classification (diagram). Case study, Radiopaedia.org (Accessed on 21 Nov 2024) https://doi.org/10.53347/rID-21310 Permalink:https://radiopaedia.org/cases/21310$

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Type 2: The real mischief-maker “middle child!” 😱 Fracture occurs at the base of the dens where blood supply is poor.🩸🚫 This results in a true disarticulation of the head and neck!😱 Healing is tough, and risks are high. This one's the bad apple 🐛🍎 of the bunch and can be an neurosurgical emergency!🏥

$Niknejad M, Odontoid fracture classification (diagram). Case study, Radiopaedia.org (Accessed on 21 Nov 2024) https://doi.org/10.53347/rID-21310 Permalink:https://radiopaedia.org/cases/21310$

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Type 1: The mild-mannered older sibling. 😇 It's a fracture at the tip of the dens. Rare and often stable, it's like a tiny crack on your phone screen—annoying but manageable. 📱 Usually heals well with a collar, but every once in a while can be unstable. But don't lose too much sleep over this one! 😴

$Niknejad M, Odontoid fracture classification (diagram). Case study, Radiopaedia.org (Accessed on 21 Nov 2024) https://doi.org/10.53347/rID-21310 Permalink:https://radiopaedia.org/cases/21310$

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First things first: what's a dens fracture? 🤔 It's a break in the odontoid process—a tooth-like peg on the second cervical vertebra (C2). 🦷 Think of it as the neck's Jenga block; when it snaps, things get shaky! Let's explore the fracture types. 🕵️‍♂️

illustration of the upper cervical vertebrae with the dens https://www.earthslab.com/anatomy/dens-odontoid-process/

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great piece with this great table! words matter.💬

table comparing potentially inappropriate communication phrases delivered by a physician with more appropriate alternatives

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So could science pull this off IRL? 🫤 Maybe someday. But for now, eyeball transplants belong in sci-fi/horror flicks like 1993's "Body Bags." Hats off to @markhamillofficial.bsky.social for his (ahem) visionary performance! Watch the movie for free here: bit.ly/4fS2U45 And stay neurdy! 🎬👁️

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You’d also need to reattach sensory fibers from the trigeminal nerve (CN V) branches to restore feeling to the cornea (mostly the ophthalmic branch V1). Otherwise? Good luck sensing that stray eyelash poking you. 🪶😭

Hapugoda S, Trigeminal nerve (illustration). Case study, Radiopaedia.org (Accessed on 19 Nov 2024) https://doi.org/10.53347/rID-54722

And the muscles! 💪 SIX extraocular muscles—superior/inferior rectus, medial/lateral rectus, superior oblique, and inferior oblique—ALL need reattachment. Miss a connection, and your eyeball’s coordination is going to be... not coordinated. 😐

College O, Eye and extraocular muscles (illustrations). Case study, Radiopaedia.org (Accessed on 19 Nov 2024) https://doi.org/10.53347/rID-44016

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Now, BLOOD SUPPLY. 🧛 The eyeball runs on the ophthalmic artery, a branch of the internal carotid artery. No blood, no eyeball. Reattaching this artery is like trying to sew spaghetti—but hey, it’s gotta happen if we are going to avoid necrosis in this surgery! 🍝🩸

https://neuroangio.org/anatomy-and-variants/ophthalmic-artery-old/

Don’t forget about blinking! 😶 Enter the facial nerve (CN VII), which powers the orbicularis oculi muscle to close the eyelid. Forget to reattach this, and your cornea dries out faster than the Gobi Desert. Hope someone’s got eye drops handy. 🏜️💧

https://www.google.com/url?sa=i&url=https%3A%2F%2Fstudy.com%2Facademy%2Flesson%2Forbicularis-oculi-muscle-innervation-origin-insertion.html&psig=AOvVaw2YoRsyRS0FbPm5Ep9UBROW&ust=1732121582862000&source=images&cd=vfe&opi=89978449&ved=0CBcQjhxqFwoTCPiX6P7t6IkDFQAAAAAdAAAAABAE

Speaking of seeing 👁️👁️, don’t forget the oculomotor nerve (CN III) for most eyeball movements, trochlear nerve (CN IV) for looking down & in, and abducens (CN VI) for lateral gaze. If these nerves miss their target, you’re looking at double vision forever. 👀👀

Gaillard F, Oculomotor nerve and ciliary ganglion (illustration). Case study, Radiopaedia.org (Accessed on 19 Nov 2024) https://doi.org/10.53347/rID-98206

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First up: NERVES. ⚡ To bring vision back online, you’d need to reconnect the optic nerve (CN II)—the main data cable to the brain. Sounds simple, right? WRONG. Axons don’t regenerate, so good luck splicing that! Hamill’s character might see more ghosts than reality (spoiler alert? 👻)

https://www.aao.org/eye-health/anatomy/optic-nerve-3

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👁️ Last night, I was watching "Body Bags" on Tubi (classic @markhamillofficial.bsky.social) when inspiration struck—what would it REALLY take to pull off an eyeball transplant like in the movie? 🤔 Let’s break down the neuroanatomy involved in this sci-fi surgery! 🧠⚡ #Blutorial #NeuroSky #MedSky

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🔹 Vestibular schwannoma: A benign tumor on the vestibulocochlear nerve (CN VIII), leading to mild vertigo and significant hearing loss, even tinnitus. Early detection is crucial; options include monitoring, radiation, or surgery. Listen to your symptoms! 🎧🩺

Bhuta S, Acoustic neuroma. Case study, Radiopaedia.org (Accessed on 18 Nov 2024) https://doi.org/10.53347/rID-4840

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Chronic vertigo got you spinning? Let's check out: 🔹 Ménière's disease: Excess inner ear fluid (endolymph) causes vertigo with hearing loss and tinnitus. Treatment starts with a low-salt diet; antihistamines if needed. It's like turning down the volume on that inner noise. 🔇🧂

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Then there's the Test of Skew! 🪄 Cover one eye, then the other, watching for vertical misalignment. A skew deviation hints at central pathology. It's like a magic trick, but instead of pulling rabbits, we're uncovering strokes! 🎩✨

Next is Nystagmus, those involuntary eye movements!👀 Unidirectional nystagmus suggests peripheral vertigo. Direction-changing or resting vertical nystagmus? That's a red flag for central causes like stroke. Eyes are the windows to the soul (and brain)! 👀⚠️

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First up: Head-Impulse Test. It's like the old "look over here!" trick. We rapidly turn the patient's head while they fixate on a target. A corrective saccade? Points to peripheral cause. No saccade? Could be central. Who knew head-turning could be so revealing? 🤔👈

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Distinguishing between vestibular neuritis and vestibular stroke can be tricky... Enter the HINTS+ exam! A fiver of bedside tests that help us tell vestibular neuritis from a stroke. Because in neurology, we leave guessing to game shows, not patient care (although I do like game shows). 🕵️‍♂️🎲

3️⃣ Vestibular stroke: Ischemia in the brain's vestibular centers in the brainstem can lead to vertigo. It's serious business—time to assess and manage risk factors like diabetes, hypertension, high cholesterol, and smoking. Your brain will thank you! 🧠❤️

Conditions R, Acute pontine infarct from vertebral artery dissection. Case study, Radiopaedia.org (Accessed on 18 Nov 2024) https://doi.org/10.53347/rID-34111

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2️⃣ Vestibular neuritis: Inflammation of the inner ear causes minutes-to-hours of vertigo. Symptoms are managed with antiemetics to curb that nausea. It should be self-limiting... if not, well, time to repeat that HINTS+ exam! 😖💊

vestibular neuritis diagram from https://my.clevelandclinic.org/health/diseases/15227-vestibular-neuritis

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Understanding these disorders is crucial for early detection and support (and passing board exams!😅). But by spreading awareness, we can maybe help improve outcomes and quality of life for those affected. These have been "Just the facts, ma'am" for the Big 3 lysosomal storage disorders. 🧠🚨👮🚓

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There's promising news for MLD! Libmeldy (atidarsagene autotemcel) is a medication therapy offering new hope! The trial results are pretty impressive! It represents a significant advancement in treatment options, potentially altering the course of the disease. Hope is (hopefully) on the horizon! 🌈

motor outcomes with Libmeldy from https://www.libmeldy.eu/clinical-results/#

Lastly, Metachromatic Leukodystrophy (MLD). A lack of arylsulfatase A (ARSA) leads to sulfatide accumulation. Patients experience motor and cognitive decline, peripheral neuropathy, and seizures. This results in confluent white-matter lesions as seen on this MRI.🧠

MRI of metachromatic leukodystrophy courtesy https://www.mldsupportuk.org.uk/about-mld/

Next on the list: Fabry disease. A deficiency in alpha-galactosidase A (GLA) causes globotriaosylceramide (Gb3) to build up. Symptoms include painful peripheral neuropathy⚡, angiokeratomas (skin lesions pictured), and corneal opacities. It can also progress to kidney and heart complications. ❤️

Scattered red angiokeratomas seen in Fabry disease on a person's wrist and hand

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First up: Tay-Sachs disease. Due to hexosaminidase A (HEXA) deficiency, GM2 ganglioside accumulates. Infants show muscle weakness, decreased motor skills, and an exaggerated startle response. Vision and hearing loss follow, leading to paralysis and, tragically, death by age 4-5. 💔

"cherry-red" macula in Tay-Sachs disease as seen on fundoscopy

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one of the most all-time killer teaching tools 🐐🧠😎🆒

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hey everyone! there'll be some exclusive content over at that other place from time-to-time. still around here though. ☮️🩷🧠

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Dawson's Fingers appear on MRI as lesions radiating perpendicular to the ventricles. They represent demyelination along small periventricular veins—a hallmark of MS. What symptoms might these lesions cause? Love this pic from bit.ly/3UVp39A

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