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Neuromuscular
| @NeuroFOD | @NeuroFOD |
|---|---|
| Neuromuscular | Neuromuscular |
| ALS genes | SOD1, C9orf72, TDP43. C9orf72 and TDP43 present with ALS and FTD |
| SOD1 gene disorder | ALS |
| What genes cause ALS + FTD? | Either TDP43 or C9orf72 |
| Progressive weakness + hyperreflexia + fasiculations | ALS. It is motor only with upper motor (hyperreflexia) and lower motor (fasiculation) findings |
| Lateral hand atrophy but spared abductor pollicus brevis | ALS. Known as the "split hand" phenomenon |
| Key diagnostic muscle spared in ALS | Abductor pollicus brevis. Part of the "split hand" phenomenon |
| ALS EMG | Polyphasic CMAPs with acute (fibrillations) and chronic (low recruitment, high amplitude) findings |
| Bunina body | A/w ALS, especially in TDP43 positive |
| Neuroanatomical regions affected in ALS | Motor cells in CNS (primary motor cortex and brainstem) and PNS (anterior horn of spinal cord) |
| ALS Treatment that increases survival | Riluzole /\survival by 3 months - but doesn't improve weakness. Opposite to Edavacurone |
| ALS treatment that lessens symptoms | Edavacurone \/weakness - but doesn't improve surival. Opposite to Riluzole |
| Riluzole mechanism of action | Glutamate inhibitor |
| Edavacurone mechanism of action | Unknown, but likely related to prevention of reactive oxidative species and oxidative stress |
| Riluzole vs Edavacurone | Riluzole /\survival, but no effect on weakness. Edavacurone \/weakness, but no change survival |
| Pseudobulbar affect treatment | Dextromethorphan + quinidine (NMDA Antag). Combination pill commonly known as Nudexta |
| Sialorrhea in ALS | Botox. Avoid acetylcholine antagonists (glycopyrrolate) b/c will worsen ALS |
| ALS symptoms but isolated to one limb | Hirayama disease |
| Pseudobulbar palsy neuroanatomy | Cortico-bulbar pathway causing dysphasia, dysarthria, upper motor neuron symptoms |
| Like ALS, but only upper motor symptoms | Primary Lateral Sclerosis PLS. Has upper motor symptoms + cranial nerve deficits |
| Upper motor only in legs + optic neuropathy + deaf | Hereditary Spastic Paraparesis |
| Hereditary Spastic Paraperesis inheritance | Autosomal dominant, chromosome 2. Hallmark is upper motor symptoms only in legs |
| Like ALS< but only lower motor symptoms | Progressive Muscle Atrophy PMA. Also in differential would be Spinal Muscular Atrophy SMA |
| Spinal muscle atrophy gene | SMN1 (survival motor neuron) on chromosome 5 |
| Hypotonia, fasiculations, poor suck/gag, "floppy baby" | Spinal Muscle Atropy SMA |
| SMA vs CMT | SMA = pure lower motor. CMT = lower motor + sensory |
| "Floppy baby" + gyencomastia | Kennedys X-linked Spinal Muscular Atrophy SMA |
| Kennedys disease inheritance | X-linked Spinal Muscular Atrophy. It's X-recessive, with CAG repeats in Androgen-receptor |
| Kennedys disease gene | CAG repeats in Androgen-receptor. X-linked (recessive) Spinal Muscular Atrophy |
| SMA treatment | Nusinersen. Increases SMN2 gene function to counteract the mutated SMN1 |
| Nusinersen mechanism | Increases SMN2 gene function to counteract the mutated SMN1 in SMA |
| Werdnig-Hoffman disease | Type 1 Spinal Muscle Atropy SMA. Most severe with infant head lag and paradoxical breathing |
| Will SMA cause cognitive deficits? | No. SMA is purely lower motor neuron findings. "Floppy baby" but cognitively intact |
| ?Lesion - arm abducted and internally rotated | "Waiter's tip" = Erb palsy. Upper trunk C5-C6 |
| ?Lesion - intrinsic hand muscle weakness | "Claw hand" = Klumpke palsy. Lower trunk C8-T1 |
| Klumpke palsy common cause | Pancoast tumor or radiation to the lower trunk C8-T1. Tumor = pain, radiation = no pain |
| Erb palsy common cause | Shoulder injury during birth. "Waiter's tip" |
| Parsonage Turner symptom | Severe pain (usually 1 extremity) -> followed by weakness and atrophy |
| Severe pain in 1 extremity -> weakness/atrophy | Parsonage Turner syndrome |
| Parsonage Turner common cause | Trauma. Can also post-viral or post-surgical. It is a non-diabetic amyotrophy |
| Parsonage Turner treatment | Steroids to reduce inflammation |
| Change of recurrence in Parsonage Turner | Usually monophasic, rarely recurs. Rarely spreads to involve more than one extremity |
| Diabetic amyotrophy symptoms | Severe lower back pain -> proximal weak. Multiple asymmetric lumbosacral radiculoplexopathies |
| Diabetic amyotrophy treatment | Steroids to reduce inflammation. This is not just neuropathy, but active inflammation |
| Most common cause of dysautonomia | Diabetes, just because of high prevelance. Things like HSAN, MSA, etc are far rarer |
| DM + erectile dysfunct, orthostatic dizziness, constipation | Diabetic autonomic neuropathy. Treatment is supportive same as DM = reduce A1c |
| Best medication for diabetic neuropathy | Pregabalin. Better than gabapentin or duloxetine. Valproate also sometimes used |
| Distal symmetric hands and legs sensory symptoms | "Stocking-glove". Diabetic sensory neuropathy |
| Diabetic neuropathy HLA association | HLA-DR3 and HLA-DR4 |
| ?Lesion - ankle dorsiflex+inversion+eversion weakness | L5 radiculopathy. Peroneal neuropathy would spare ankle inversion (tibial nerve) |
| ?Lesion - ankle dorsiflex+eversion weak, spare inversion | Peroneal neuropathy. Ankle inversion is from tibial nerve. If all affected = L5 radiculopathy |
| Pain back->thigh->postleg->lateralfoot, \/ankle reflex | Sciatica vs S1 radiculopathy |
| Back pain, worse with standing, improve with sitting | Spinal stenosis (improves with bending spine). Opposite to spinal spondylosis |
| Back pain, worse with sitting, improve with standing | Spinal spondylosis (improves with straightening the spine). Opposite to spinal stenosis |
| Spinal stenosis vs spondylosis | Stenosis improves with bending. Spondylosis improves with straightening |
| HMSN | Hereditary Motor Sensory Neurology = Charcot-Mariet-Tooth syndrome |
| CMT1 mutation | Duplication (not deletion - a favorite question) of PMP22 on chromosome 17 |
| PMP22 gene | CMT1. Codes for myelin |
| CMT1 inheritance | Autosomal dominant |
| CMT2 gene | Mitofuscin2. Autosomal dominant |
| Motor+sensory neuropathy, +pes cavus | CMT. Also can have hamer toe, and chacot joint deformity |
| CMT symptoms | Motor+sensory neuropathy (aka HMSN), +pes cavus, +hammer toe. No CNS symptoms |
| CMT pathophysiology | PMP22 duplication = impaired myelin structure. Only PNS Schwann cells (no CNS) |
| Onionbulb on histopathology | Schwann cells look like onionbulbs b/c they wrap around the axon. If /\ = proliferation = CMT |
| CMT NCS/EMG | Demyelinating (/\latency, block), but no temporal dispersion b/c intrinsic hereditary process |
| HNPP vs CMT | Different clinical syndromes. Only link is CMT = PMP22 duplication, HNPP = PMP22 deletion |
| PMP22 deletion | HNPP. Autosomal dominant |
| HNPP inheritance | PMP22 deletion. Autosomal dominant - same as CMT |
| Pressure-sensitive demyelination | Tomaculous neuropathy. Differential also includes HNPP |
| HNPP vs Parsonage Turner | HNPP = trigger of pressure, not painful. Parsonage Turner = no trigger, severe pain at first |
| Pressure -> weakness, +deaf, +scoliosis | HNPP. Scoliosis is important clinical comorbidity |
| AIDP causes and pathophys | C. Jejuni, CMV. Infection -> antibodies -> cross-reactivity to myelin -> demyelination |
| CMT vs AIDP | CMT = hereditary, no temporal dispersion. AIDP = acquired, yes temporal dispersion |
| Symmetric ascending sensory loss, weakness, areflexia | AIDP. Emphasis on symmetric. Note no CNS symptoms, only PNS Schwann cells |
| AMAN / AMSAN / MADSAM | Variants of AIDP with not just demyelination but also axonal involvement |
| 1st sign of AIDP on NCS/EMG | Increased F-wave duration |
| F-wave pathophysiology | Stimulate motor -> retrograde transmission to ant horn cells -> back same nerve -> measure F |
| H-reflex pathophysiology | Stimulate sensory tibial -> dorsal column -> interneuron -> ant horn -> motor tibial -> measure H |
| AIDP histopathology | Endoneural inflammation with polymorphonuclear cells |
| AIDP when to intubate? | Consider elective intubation when FVC < 20ml/kg |
| AIDP treatment | IVIG or PLEX. No steroids (unclear reason, but clinical trials show steroids worsen AIDP) |
| AIDP not improving on IVIG or PLEX, 2nd line? | Repeat IVIG |
| Anti-GM1 | Multifocal Motor Neuropathy MMN |
| AIDP vs CIDP | AIDP = peak at 4 wks, resolve w/in 8 wks. CIDP = symptoms lasting >8 wks |
| Anti-GQ1b | Miller Fisher variant of AIDP. Also related to Bickerstaff brainstem encephalitis |
| Opthaloplegia + ataxia + areflexia | Miller Fisher variant of AIDP |
| IgG4 disease | Anti-IgG4. Presents with AIDP + renal failure |
| AIDP diagnostic finding | Albuminocytologic dissociation = increased protein in CSF compared to blood |
| Wrist drop, foot drop | Consider MMN. Also differential includes lead toxicity |
| MMN most common nerves affected | Radial (wrist drop), peroneal (foot drop) |
| MMN treatment | IVIG. No steroids |
| MMN EMG | >2 focal conduction blocks |
| Carpel tunnel most common cause | Mechanical, then DM. Other big causes = hypothyroid, amyloid, CKD, rheumatoid, pregnancy |
| Weak abductor pollicus, thenar sparing, worse at night | Carpal tunnel |
| Tinnel sign vs Phannel sign | Tinnel = "tap" on wrist. Phallen = "fallen prayer" hyperflexion of wrist |
| Carpel tunnel 1st line treatment | Surgery is the board answer. Typically, try splints and supportive care, then surg |
| Isolated sensory loss in lateral thigh | Meralgia parasthetica. From isolated lateral femoral nerve compression d/t obesity/pregnancy |
| Meralgia parasthetica worsens with? | Walking. Due to increased compression on lateral femoral nerve |
| Neuropathy associated with chemotherapy | Typically length-dependent "stocking-glove" like DM, but also significant pain |
| Small fiber neuropathy pathophysiology | Affects myelinated A and unmyelinated C fibers. Likely d/t DM, hypothyroidism, toxins, etc. |
| Small fiber neuropathy presentation | Primary sensory (pain/burning/etc). Can have autonomic |
| Small fiber neuropathy most specific test | QSART (quantitative sweat test). Rarely is biopsy ever performed |
| QSART | Quantitative sweat test. Most specific test for small fiber neuropathy |
| Mononeuritis multiplex association | Vasculitis (polyarteritis nodosa, Wegners, Sjogrens, Churg-Strauss), cryoglobinemia, lyme, HIV |
| Mononeuritis multiplex vs MMN | Both >2 isolated nerves. Mononeuritis = inflammatory, a/w vasculiits. MMN = demyelinating |
| Serine palmatoyltransferase | HSAN1 |
| Sensory loss, +ulcers, +deaf, +dyautonomia | Hereditary Sensory and Autonomic Neuropathy HSAN. Ulcers d/t poor wound healing |
| Sensory loss, +ulcers, +deaf, +dysautonomia, Ashkenazi | Riley-Day variant of HSAN. Seen in Ashkenazi Jewish population. Has severe dysautonomia |
| Baby insensitive to pain, self-mutilating behavior | HSAN4 (NTRK1 for tyrosine kinase receptor). Not Lesch-Nyan where injury is d/t constant pain |
| What receptors are affected in a ganglionopathy? | Nicotinic Ach. Nicotinic = nerves (parasym, preganglionic symp). Muscurinic muscle NMJ |
| Random acute dysautonomia episodes lasting few mins | Autonomic ganglionopathy. If concurrent sensory symptoms = HSAN |
| Autonomic ganglionopathy treatment | IVIG or PLEX |
| Myasthenia Gravis antibodies | Anti-AchR (binding, blocking and modulating), Anti-MuSK, Anti-Striated muscle |
| Anti-Striated muscle antibodies | Myastenia Gravis, particularly associated with thymoma |
| Anti-MuSK antibodies | Myasthenia Gravis |
| What imaging to get in Myasthenia Gravis? | Chest CT with contrast to evaluate for thymoma |
| Myasthenia Gravis EMG | >10% decrement on slow (2-3Hz) stimulation. No increment on rapid (30Hz) stimulation |
| Lambert Eaton EMG | Will have decrement on slow (2-3Hz) stimulation. Increment is seen only with rapid (30Hz) stim |
| EMG decrement on 2-3Hz stim | MG OR Lambert-Eaton (both decrement on slow stim). L-E = increment on rapid (30Hz) stim |
| Oculobulbar weakness worsening with exercise | Myasthenia Gravis |
| Tensilon test | Administer Edrophonium (very short acting acetylcholinesterase inhibitor) = improve symptoms |
| Most sensitive test for Myasthenia Gravis | Single fiber EMG. Will demonstrate jitter |
| Pyridostigmine use in Myasthenia Gravis | Pyridostigmine = acetylcholinesterase inhibitor. Mainly for short term relief |
| Myasthenia Gravis treatment | Pyridostigmine only for short term relief. Needs chronic steroids or IVIG. New is Eculizumab |
| Eculizumab | C5 inhibitor used in treatment of Myasthenia Gravis |
| When to do thymectomy in Myasthenia Gravis? | Generally useful only in patients <60 yo |
| SOX1 | Lambert-Eaton. Don't confuse with SOD1 = ALS |
| Anti-P/Q-type voltage-gated Ca2+ channel | Lambert-Eaton |
| Lambert Eaton pathophysiology | Anti-Ca channel antibody = no Ca at axon bulb = no fusion of Ach vesicles = no Ach release |
| What imaging to get in Lambert Eaton? | Full body pan-CT to evaluate for malignancy |
| Myasthenia Gravis vs Lambert Eaton associations | MG = thymoma (typically benign). L-E = Small cell lung cancer |
| Dermatomyositis vs Polymyositis | Dermato = B-cell humoral, perimysial inflam. Poly = T-cell mediated, endomysial inflam |
| Dermatomyositis assocaition | Ovarian cancer. Also interstitial lung disease, especially if Anti-Jo1 |
| Anti-Jo1 | Cytoplasmal t-RNA antibody seen in dermatomyositis and interstitial lung disease |
| Prox>distal weakness, +malar rash, +helicotrope eyelid | Dermatomyositis |
| Imaging to get in dermatomyositis | Full body pan-CT to evaluate for malignancy. Include CT chest for interstitial lung disease |
| Imaging to get in polymyositis | CT chest for intersitial lung disease. No pan-scan b/c not a/w malignancy |
| Dermatomyositis antibodies | Anti-RNA, Anti-M2. Anti-Jo1 specifically if comorbid interstitial lung disease |
| Distal upper extremity + proximal lower extremity weak | Inclusion Body Myositis IBM. Typically spares proximal upper extremity deltoids |
| NT5C1A | Inclusion Body Myositis IBM |
| Inclusion Body Myositis pathophysiology | B-cell humoral inflammation |
| Inclusion Body Myositis histopathology | Rimmed vacuoles, +congophillic staining, endomysial inflammation |
| Patient found down, CK 10x normal | Rhabdomyolysis |
| Rhabdomyolysis main electrolyte concern | Hyperkalemia. Muscle cell breakdown will release intracellular K |
| Steroid myopathy vs statin myositis | Steroid = myopathy = no inflam = normal CK. Statin = myositis = inflam = CK in 1000s |
| Which muscle fibers targetted in steroid myopathy? | Type 2 |
| Anti-HMGCoA | Statin myositis. Aka necrotizing myositis |
| Anti-SRP | Statin myositis. Aka necrotizing myositis |
| Statin myositis treatment | Stop statins AND start immunosuppression (b/c anti-HMGCoA/anti-SRP will persist) |
| Weakness. Rod-like fibers on histopathology | Nemaline Myopathy |
| Proximal weakness with cardiomyopathy | Consider Nemaline Myopathy. Also many other differentials including amyloidosis |
| Duchenne vs Becker inheritance | Both X-linked recessive (frequently asked). DMD = out-of-frame mutation, Becker = in-frame |
| Dystrophin gene mutation | Duchenne (out-of-frame) vs Becker (in-frame) |
| Calf pseudohypertrophy | Duchenne and Becker muscular dystrophies |
| Cause of death in Duchenne muscular dystrophy | Cardiomyopathy and failure |
| Duchenne vs Becker CK levels | Both CK levels >50x normal |
| Duchenne vs Becker treatment | Both daily steroids. Add Lisinopril/ARB for cardiomyopathy. New = Golodirsen (exon splicer) |
| Golodirsen | New treatment for DMD and Beckers. Does exon splicing to skip mutated exons |
| Duchenne vs Becker histopathology | Both have endomysial+perimysial inflammation. See evidence of degeneration and regeneration |
| Progressive ptosis, dysphasia, proximal weakness | Oculopharyngeal mucular dystrophy |
| Proximal weakness, can't whistle | FacioScapuloHumeral Dystrophy FSHD |
| FSHD gene | D4Z4 on chromosome 4. Leads to decreased methylation. Autosomal dominant |
| FSHD inheritance | Autosomal dominant |
| Beaver sign | Weak lower abdominal muscles = causes belly button to rise with abdominal reflex. A/w FSHD |
| Limb-Girdle Muscular Dystrophy gene | Dysferlin on chromosome 2. Autosomal dominant |
| Proximal shoulder + pelvis weakness | Limb-Girdle Muscular Dystrophy |
| Limb-Girdle Muscular Dystrophy association | A-V block |
| Myoshi Myopathy | Similar to Limb-Girdle Muscular Dystrophy (same dysferlin gene), but also affects distal legs |
| LMNA | Lamin nuclear membrane antibody. A/w Emery-Dreifuss muscular dystrophy |
| Emery-Dreifuss muscular dystrophy | Proximal shoulder/pelvic weakness (similar to LGMD), +joint contractures |
| Proximal shoulder + pelvis weakness, +joint contractures | Emery-Dreifuss muscular dystrophy |
| Myotonic Dystrophy 1 gene | CTG repeats on DMPK gene on chromosome 19. Autosomal dominant |
| Myotonic Dystrophy 2 gene | CCTG repeats on ZNF9 (Zinc Finger) gene on chromosome 3. Autosomal dominant |
| Fukuyama myotonic dystrophy gene | alpha-dystroglycan. Autosomal recessive |
| DMPK | Myotonic Dystrophy 1. CTG repeats on DMPK. Autosomal dominant |
| ZNF9 (Zinc Finger) | Myotonic Dystrophy 2. CCTG repeats on ZNF9. Autosomal dominant |
| alpha-dystroglycan | Fukuyama myotonic dystrophy |
| Weakness + myotonia + face/temporal wasting | Myotonic Dystrophy 1 |
| Hand grabs doorknob and cannot let go | Myotonic Dystrophy |
| Weakness + myotonia + early cataracts | Myotonic Dystrophy 2 |
| Weakness + baby floppy + seizures | Fukuyama myotonic dystrophy |
| Myotonic Dystrophy EMG | Repetive firing that waxes/wanes. "Dive bomber" sound |
| Myotonic Dystrophy treatment | Mexeilitine for myotonia. Prophylactic pacermakers for impending AV-blocks |
| Mexeilitine | Used for myotonia. It increases the refractory period after an action potential |
| Myotonic Dystrophy associations | Baldness, cataracts, AV-block, DM, gonal failure |
| Weakness + bald and blind (cataracts) | Myotonic Dystrophy |
| Ullrich syndrome | Congenital muscular dystrophy. Collagen Type IV gene defect |
| Myotonia Congenita inheritance | Autosomal domiant. Some auto recessive. CLCN1 Chlorine receptor gene on chromosome 7q |
| Muscle stiffness, inability to relax, worse with cold | Myotonia Congenita |
| Myotonia Congenita treatment | Mexeilitine for myotonia. It increases the refractory period after an action potential |
| Myotonia Congenita vs Paramyotonia Congenita | Myotonia = CLCN Cl, stiff better after warmup. Paramyotonia = SCN4A Na, no improvement |
| CACNA1S | a1-dihydro-Calcium-receptor. A/w hypokalemic periodic paralysis |
| Runner ate big carbohydrate meal -> now can't move | Hypokalemic periodic paralysis. Trigger is exercise/carbs |
| Hypokalemic periodic paralysis test | Give glucose. Glucose + insulin = shift K into cells = further worsen hypokalemia = symptoms |
| Hypokalemic periodic paralysis treatment | Low carbs, high K. Acetazolamide. Diclorphenamide |
| Acetazolamide & Diclorphenamide | Carbonic annhydrase stop extracel->intracel K. /\serum K. Tx for hypokalemic periodic paralysis |
| Hyperkalemic periodic paralysis gene | SCN4A Na channel |
| Runner goes into cold -> now can't move | Hyperkalemic periodic paralysis. Main trigger is cold, though can still occur after exercise/carbs |
| Hyperkalemic periodic paralysis test | Give potassium. /\serum K will precipitate symptoms |
| Hyperkalemic periodic paralysis treatment | Give glucose. Glucose + insulin = shift K into cells = \/K |
| Thyrotoxic periodic paralysis treatment | Same as thyrotoxicosis (propanolol, PTU/methimazole) |
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