Downloaded 1,462 times
More Related Content
Similar to Neuropathy& myopathy
Neuropathy& myopathy
- 1. MYOPATHIES & NEUROPATHIESwww.freelivedoctor.com
- 2. NEUROPATHIES, MYOPATHIES NEUROPATHIES(7) Inflammatory Infectious Hereditary (HMSN-I) HMSN-II, HMSN-III Acquired Toxic/Metabolic Traumatic Neoplasms MYOPATHIES (9) Denervation Dystrophies Ion Channel Congenital Genetic Metabolic Inflammatory Toxic NeuroMuscular Junction Neoplasms www.freelivedoctor.com
- 3.
- 4.
- 5.
- 6.
- 7.
- 8.
- 9.
- 10.
- 11.
- 12.
- 13.
- 14.
- 15.
- 16.
- 17.
- 18.
- 19.
- 20.
- 21.
- 22. GENERAL Reactions NERVEDEMYELINATION (segmental) AXONAL DEGENERATION NERVE REGENERATION REINNERVATION MUSCLE FIBER NECROSIS VACUOLIZATION REGENERATION ATROPHY HYPERTROPHY www.freelivedoctor.com
- 23.
- 24.
- 25.
- 26.
- 27.
- 28. NEUROPATHIES, MYOPATHIES NEUROPATHIES(7) Inflammatory Infectious Hereditary (HMSN-I) HMSN-II, HMSN-III Acquired Toxic/Metabolic Traumatic Neoplasms MYOPATHIES (9) Denervation Dystrophies Ion Channel Congenital Genetic Metabolic Inflammatory Toxic NeuroMuscular Junction Neoplasms www.freelivedoctor.com
- 29. NEUROPATHY , InflammatoryGuillain-Barr é Preceded by “influenza”-like illness NO actual specific etiologic agent isolated, autoimmume disease to myelin gangliosides most likely Inflammation of a peripheral nerve DEMYELINATION “ ASCENDING” paralysis www.freelivedoctor.com
- 30. Guillain-Barr é, (AIDP), A cute I nflammatory D emyelinating P olyneuropathy www.freelivedoctor.com
- 31. NEUROPATHY , InfectiousLeprosy Diphtheria V/Z (Varicella-Zoster) www.freelivedoctor.com
- 32.
- 33.
- 34. N E UR O T O X I N C. DIPHTHERIAE www.freelivedoctor.com
- 35. Z O ST E R POSTHERPETIC NEURALGIA ZOSTER in DRG www.freelivedoctor.com
- 36. NEUROPATHY , Hereditary(defective myelination) ( H ereditary M otor and S ensory N europathy) HMSN-I (Charcot-Marie-Tooth) HMSN-II (Like CMT of the neurons) HMSN-III (Palpable Nerves) (aka, Dejerine-Sottas) www.freelivedoctor.com
- 37. PES CAVUM(S), in CMT www.freelivedoctor.com
- 38. NEUROPATHY , Toxic/MetabolicSymmetric, Asymmetric Sensory, Sensorimotor Somatic, Autonomic Focal, Multifocal www.freelivedoctor.com
- 39. NEUROPATHY , Toxic/MetabolicDiabetes Mellitus Vitamin Deficiencies (many Bs, E) Heavy Metals, Pb, As, etc. Organic Compounds CHEMO www.freelivedoctor.com
- 40.
- 41. NEUROPATHY , TraumaticLaceration Avulsion Carpal Tunnel Traumatic (amputation) “Neuroma” “ Saturday Night” Palsy Morton “Neuroma” www.freelivedoctor.com
- 42. TRAUMATIC NEUROMA “Regenerating Axons and Glia (Schwann Cells), but with no direction” www.freelivedoctor.com
- 43. MORTON’S NEUROMA TraumaticCompression F>M Interdigital Intermetatarsal MEDIAL Plantar Nerve 3 rd COMMON digital branch www.freelivedoctor.com
- 44.
- 45. NEUROPATHY , NeoplasticBenign: Schwannoma Malignant: Malignant Schwannoma www.freelivedoctor.com
- 46.
- 47. Antoni A: “Palisaded” Antoni B : NON-Palisaded www.freelivedoctor.com
- 48.
- 49. MYOPATHY , DenervationMUSCLE FIBERS CANNOT SURVIVE UNLESS THEY ARE INNERVATED PERIPHERAL NERVE PATHOLOGY ANTERIOR HORN CELL PATHOLOGY www.freelivedoctor.com
- 50.
- 51. S PINAL M USCULAR A TROPHY Childhood diseases Chromosome #5 that harbors the survival motor neuron gene ( SMN1 ) Anterior Horn Cells Often PAN-fascicular More peripheral muscles www.freelivedoctor.com
- 52. MYOPATHY , “Dystrophic”Jerry’s kids, no “DYSTROPHIN” DUCHENNE (DMD), x-linked BECKER (BMD) (less common, less severe, same chromosome) Many others also, all of which have complex genetic patterns which have all been precisely defined MYOTONIA is a common feature www.freelivedoctor.com
- 53.
- 54.
- 55.
- 56. www.freelivedoctor.com Limb GirdleMuscular Dystrophies Inheritance Locus Gene Clinicopathologic Features 1A Autosomal-dominant 5q31 Myotilin Onset in adult life with slow progression of limb weakness, but sparing of facial muscles; dysarthric speech 1B Autosomal-dominant 1q21 Lamin A/C Onset before the age of 20 years in lower limbs, progression during many years with cardiac involvement 1C Autosomal-dominant 3p25 Caveolin-3 (M-caveolin) Onset before the age of 20, clinically similar to type 1B 1D Autosomal-dominant 7p Unknown Limb girdle muscle weakness, adult onset 2A Autosomal-recessive 15q15.1-21.1 Calpain 3 Onset in late childhood to middle age; slow progression during 20–30 years 2B Autosomal-recessive 2p13.3-q13.1 Dysferlin Mild clinical course with onset in early adulthood 2C Autosomal-recessive 13q12 γ-Sarcoglycan Severe weakness during childhood, rapid progression; dystrophic myopathy on muscle biopsy 2D Autosomal-recessive 17q21 α-Sarcoglycan (adhalin) Severe weakness during childhood, rapid progression; dystrophic myopathy on muscle biopsy 2E Autosomal-recessive 4q12 β-Sarcoglycan Onset in early childhood, with Duchenne-like clinical course 2F Autosomal-recessive 5q33 δ-Sarcoglycan Early onset and severe myopathy; dystrophic myopathy on muscle biopsy 2G Autosomal-recessive 17q11-q12 Telethonin Distal weakness with limb-girdle weakness in late childhood to adulthood; rimmed vacuoles in muscle cells 2H Autosomal-recessive 9q31-q34.1 Tripartite motif-containing protein 32 (TRIM32) Limb-girdle and facial weakness with onset in childhood, mild, slowly progressive course
- 57. MYOPATHY , IonChannel “Channelopathies” MYOTONIA/HYPOTONIC PARALYSIS FAMILIAL, (genetic) DISEASES TRIGGERED BY: Exercise Cold Carb Intake Classified by K+, ↑ K+, ↓ K+ MALIGNANT HYPERTHERMIA can be triggered off by anesthetic halogenated inhalation agents in some of these patients!!! www.freelivedoctor.com
- 58. MYOPATHY , Congenital“Floppy Babies” HYPOTONIC FAMILIAL, (genetic) DISEASES MANY TYPES, in most of which the precise genetic defects have been identified www.freelivedoctor.com
- 59. MYOPATHY , Metabolic(genetic also) LIPID Mitoch. Enz. Def. LIPID ACCUMULATION MITOCHONDRIAL “ PARKING LOT ” mitochondria www.freelivedoctor.com
- 60.
- 61. PARKING LOT MITOCH.www.freelivedoctor.com
- 62. MYOPATHY , InflammatoryDERMATOMYOSITIS POLYMYOSITIS INCLUSION BODY MYOSITIS ALL HAVE UNCLEAR ETIOLOGIES www.freelivedoctor.com
- 63. DERMATOMYOSITIS (often peri-vascular)www.freelivedoctor.com
- 64. POLYMYOSITIS, usually endo- myseal www.freelivedoctor.com
- 65. INCLUSION BODY MYOSITIS,“rimmed” vacuole www.freelivedoctor.com
- 66. MYOPATHY , ToxicTHYROTOXICOSIS ETHANOL DRUGS ( steroids , chloroquine) DRUGS ( MANY MANY others) www.freelivedoctor.com
- 67. MYOPATHY , NeuroMuscular Junction Myasthenia Gravis Associated with thymomas Thymectomies often useful Rx: AUTOIMMUNE DISEASE, CLEARLY Ab’s to ANTI-CHOLINESTERASE RECEPTORS Anticholinesterase test is very diagnostic YOUNG WOMEN WITH EYE MUSCLE: Ptosis Diplopia General Weakness Lambert-Eaton Syndrome (paraneoplastic) www.freelivedoctor.com
- 68. MYOPATHY , NeoplasticBenign Rhabdomyoma Malignant Rhabdomyosarcoma www.freelivedoctor.com
Editor's Notes
- #4 LONGITUDINAL H&E section of a peripheral myelinated nerve
- #5 TRANSVERSE H&E section of a peripheral myelinated nerve
- #6 SILVER STAIN showing black axons surrounded by washed out fat (myelin)
- #7 MYELIN stain showing the REVERSE of the previous slide
- #8 Medium sized nerve, transverse section, showing a finite number of myelinated axons and schwann cells
- #9 How many axons are in this nerve section? Perhaps around 20?
- #10 Classical neurovascular “triad”: Artery, Vein, Nerve
- #11 Smaller neurovascular triad, or “bundle”. How many axons are in this small nerve? Perhaps 5-8?
- #12 The more longitudinally a nerve happens to be sectioned, the more “wavy” it appears.
- #13 Electron microscope section, peripheral nerve. How many axons are myelinated? Perhaps about 7?
- #14 Please differentiate between microtubules (small circles) and neurofilaments (dots). Find the schwann cell nucleus, find an UNmyelinated axon, find a mitochondrion.
- #15 Note that the myelin “layering” has to start (INNER mesaxon) and end (OUTER mesaxon) somewhere!
- #16 It looks like one micrometer (micron) would span about 60 layers of myelin? True or false?
- #17 Slam dunk classical appearance of skeletal muscle. Why is skeletal muscle or voluntary striated muscle a better name for this than just striated muscle?
- #18 Is the peripheral nature of skeletal muscle nuclei more apparent from cross or longitudinal sections? Ans: Cross Why? Ans: Simple geometry! Are striations better seen on cross or longitudinal sections? Ans: Longitudinal Why? Ans: Simple geometry again!
- #19 EM, skeletal muscle, the sarcomere, like America, extends from “Z” to shining “Z”! Find glycogen. Find Mitochondria.
- #22 Find the sarcoplasmic reticulum, which is the endoplasmic reticulum of skeletal muscle. Find MYOSIN filaments, find ACTIN.
- #23 These are NONSPECIFIC reactions of nerve and skeletal muscle to injury
- #24 Extremely important concepts of nerve demyelinization, axonal damage, and regeneration
- #26 Muscle fiber necrosis
- #27 Muscle fiber vacuolization
- #28 Muscle fiber hypertrophy/atrophy. Certain fiber hypertrophy to make up for the loss of atrophic fibers
- #34 Why is auto-amputation common in severe leprosy? Ans: Nerve destructioon
- #37 CMT is a very HETEROGENEOUS group of hereditary diseases involved with defective myelination, e.g., CMT1, CMT2, CMT3, CMT4, X-linked CMT
- #38 Peroneal muscle involvement and HIGH arching is common in CMT.
- #41 BOTH demyelination AND a direct TOXIC effect to peripheral nerves are seen in diabetes, which is the MOST COMMON cause of neuropathy
- #44 Morton’s Neuromas most commonly occur in the 3 rd common digital branch of the MEDIAL plantar nerve, i.e., 3 rd and 4 th toe at the distal metatarsal level.
- #47 Schwannoma
- #51 Hypertrophy/Atrophy scenario
- #53 What is myotonia?
- #54 Dystrophin, an intracellular protein, forms an interface between the cytoskeletal proteins and a group of transmembrane proteins
- #56 Note again the atrophy/hypertrophy scenario
- #64 Half of dermatomyositis patients also have cancer, many are young adults and therefore there is a juvenile variant. Note the eyelid appearance and eyelid edema.
- #65 No skin changes, only in adults, no big association with cancer, and the inflammation is ENDOMYSEAL rather than PERIVASCULAR.
- #66 Very obscure disease, but said to be the most common acquired myopathy in people over the age of 50. Quads and wrist flexors, asymmetrically, is the rule.
- #69 Exceedingly RARE tumors, you may see, possibly ONE rhabdomyosarcoma in your life, perhapos.