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IN THE NAME OF GOD

IN THE NAME OF GOD. Charcot-Marie-Tooth Prevalence:1/2500 type1 :begins in first or second decade manifestations: a ;slowly progressive weakness b ; muscular wasting

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IN THE NAME OF GOD

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  1. IN THE NAME OF GOD

  2. Charcot-Marie-Tooth Prevalence:1/2500type1:begins in first or second decade manifestations: a ;slowly progressive weakness b ; muscular wasting c ; sensory impairment (legs) d ; foot deformities e ; upper limbs lnvolved later 2/3 cases

  3. f ; pes cavus and hammer toes 75% g ; mild kyphosis 10% h ; hypertrophic peripheral nerves 25% I ; absent ankle reflex (always) j ; distal sensory impairment (vib-light T) k ; essential tremor in hands (Rousy-Levy) l ; asymptomatic slowing NCV 10%

  4. m ;exacerbate in pregnancy (1/3 temporary) n ;routin tests normal o ;CSF normal D D with CIDP p ;sural biopsy onion bulb formation q ;MNCV decrease >25%of normal lower limit .NCV<38m/s in median N r ;SNCV abnormal

  5. CMT type 2 :1/3 cases –autosomal D Symptoms: begin later- second decade upper limbs involvement & tremor and areflexia are less frequent MNCV normal or mild abnormal SNAP absent Sural biopsy :hallmark axonal D

  6. CMT X: similar to type 1 affected male more severely no male to male transmission second most common (7-16%) associated with CNS involvement (white matter)+ BAER abnormality deafness Ataxia ,dysarthria ,and weakness after visiting high altitudes

  7. CMT X : NCV in men significant slowing BAER often abnormal Biopsy axonal loss & demyelination CMT 3 : Dejerine Sottas disease ;CSF pro Progressive hyperthrophic neuropathy Childhood onset- uncommon –areflexia Proximal weakness-enlarged nerves Sporadic(AR some times)-MCV<10m/s

  8. CMT4: AR- childhood - progressive weakness Inability to walking (adolescence) NCV 20-30m/s CSF pro is normal Nerve biopsy : loss of myelination onion bulb

  9. DIABETIC NEUROPATHY 5% PER YEARS RETINOPATHY-NEPHROPATHY-NEURDPATHY IDDM- NIDDM VULNERABLE TO D N LEADING CAUSE OF PERIPHERALNEUROPATHY

  10. FEREQUENCY OF D N 7-80% RISK OF DEVELOPING SYMPTOMIC D N 5YEARS:4-10% 25YEARS:15% 66% HAVE OBJECTIVE D N IDDM 15%--- NIDDM 13% SYMPTOMATIC AGE&D M CORRELATE WITH ABNORMAL VIBRATION TEST

  11. HIGHER PERCENTAGE IN THOSE WITH LOW SERUM INSULINE CONCENTRATION RISK FACTORS WITH ON INCREASED FOOT SENSATION :POOR GLYCEMIC CONTROL-HEIGHT-AGE-ALCOHOL EMG&NCV DEMONSTRATE SUBCLINICAL ABNORMALITIES IN MOST PATIENTS WITH IDDM AFTER5-10YEARS D N

  12. CLASSIFICATION :SYMMETRIC FOCAL CLINICAL FEATURES DYSTAL SYMMETRICAL P N MOST COMMON D N 75% OF ALL D N SENSORY LOSS&AUTONOMIC SYMPTOMS CORRELATE WITH SEVERITY MOST PATIENTS HAVE MINOR MOTOR SIGN

  13. STOCKING&GLOVE DISTRIBUTION BEGIN IN THE TOES IN MORE ADVANCED CASES ANTERIOR CHEST&ABDOMEN ARE AFFECTED DYEING BACK PROCESS LARGE FIBER-------SMALL FIBER

  14. LARGE FIBER D N PAINLESS PARESTHESIAS(TOE&FEET) IMPAIRMENT OF VIBRATION&POSITION DTR-ATAXIA SENSORY LOSS DIABETIC POLYRADICULONEUROPATHY ONSET DISTAL SYMMETRIC THEN PROXIMAL SEGMENT L SR00TS-THORACIC—CERVICAL E M G –LOW GRADE ACTIVE DENERVATION(THORACIC)

  15. TRIGEMINAL BLINK REFLEX IS SPARED DIABETIC POLYRADICULOPATHY NORMAL S N C V—ROOT LEVEL IS AFFECTED(EMG&CLINICAL) NIDDM&IDDM ARE ASSOCIATED WITH CIDP ------RESPONSE TO IVIG SMALL FIBER D N DEEP PAIN BURNING-ACHING-SHOOTING ALLODYNIA TEMPERATURE&PAIN ARE IMPAIRED—PERSERVATION OF DEEP SENSE&DTR—AUTONOMIC

  16. HYPERGLYCEMIC D N CAN OCCUR BEFORE THE ONSET OF D M IGT OGTT--------SMALL FIBER D N PAINFUL P N(UNKNOWN CAUSE)SHOULDBE UNDERGO OGTT TREATMENT INDUCED NEUROPATHY LASSTS FOR WEEKS

  17. DIABETIC NEROPATHIC CACHEXIA ACUTE PAINFUL D N—DEPRESSION-INSOMNIA-WEIGHTLOSS -IMPOTENCE M>F ACRODYSTROPHIC NEUROPATHY SENSORY LOSS-FOOT ULCER DISTAL JOINT DESTRUCTION CHRONIC FOOT ULCER---TRAUMA ISCHEMIA INFECTION

  18. NEUROPATHIC ARTHROPATHY(CHARCOTJOINT) -----FOOT ULCER-AUTONOMIC IMPAIRMENT D D SYPHLIS DIABETICPSEUDOTABES:LANCINATING PAIN-LOSS 0F JOINT SENSATION ABNORMALPUPIL EMG&NCV ARE HELPFUL IN CONFIRMING NCV -H REFLEX&AMPLITUDE OF SURAL NERVE

  19. ACTIVE DENERVATION POTENTIAL DIABETIC AUTONOMIC NEUROPATHY USUALLY CORRELATE WITH SEVERITY OFSOMATIC NEUROPATHY SUBCLINICAL-SEVER(HEART-GI-GU ) OH-RESTING TACHYCARDIA-H R UNRESPONSIVE TO RESPIRATION-------HALLMARK OFAUTONOMIC D N OH—FAILURE OF SYMPATHIC&CARDIAC COMPENSATORY IS IMPAIRED

  20. D D---HYPOVOLEMIA-MEDICATION VAGAL DENERVATION-----TACHYCARDIA IN REST SILENT MI GI MOTILITY ABNORMALITY-FECAL INCONTINENCE-DELAYED GASTRIC EMPTYING(NAUSEA)-DIARRHEA-BACTRIAL OVERGHOWTH-COLONIC ATONY(CONSTIPATION)-BLADDER ATONY IMPOTENCE SUDOMOTOR ABNORMALITIES

  21. DISTAL ANHIDROSIS GUSTATORY SWEATING PUPILLARY ABNORMALITIES ASYMMETRIC PROXIMALNEUROPATHY(DIABETIC AMYOTROPHY) BRUNS GARLAND SYNDROME WEAKNESS OF PELVIFEMURAL MUSCLES AGE>50YEARS NIDDM—UNRELATED TO DURATION OF DM

  22. SEVER PAININ LOWER BACK&HIP&TIGH WEAKNESS—DTR-OPPOSITE LEG AFFECT MINOR PARESTHESIAS-WEIGHT LOSS >50% STEADY PROGRESSION-PAIN RECEDS SPONTENOUSLY-RECOVERY UP TO 24 MON 66%OVERLAP WITH DISTAL DN EMG:LOW AMPLITUDE-FIBS- IMAGING:R/O OTHER CAUSES SURAL NERVEBIOPSY(ISCHEMIA)

  23. TRUNCAL NEUROPATHY T4-T12 ROOTS INVOLVED PAIN IN CHEST&ABDOMEN- BULGING OF ABDOMINAL WALL-OLDER PATIENTS NIDDM-ALLODYNIA-ABRUPT ONSET D D:H Z-MASS LESIONS RECOVERY:SEVERAL MONTHS E M G:ACTIVE DENERVATION FOCAL ANHIDROSIS

  24. LIMB MONONEUROPATHY MECANISMS:1-INFARCTION2-ENTRAPMENT INFARCTION:ABRUOT ONSET-ACUTE AXONAL DEGENERATION-SLOW RECOVERY MEDIAN-ULNAR-PRONEAL(MOST COMMON) ENTRAPMENT:INSIDIOUS ONSET-FOCAL CONDUCTION BIOCK- MULTIPLE MONONRUROPATHIES ABRUPT ONSET-PROXIMAL NERVE-

  25. NERVE INFARCTION DUE TO OCCLUSION OF VASNERVORUM D D:SYSTEMIC VASCULITIS CRANIAL MONO NEUROPATHIES THIRD NERVE PALSY IS MOST COMMDN PUPILLARY SPARING 4-6-7TH ARE AFFECTED ACUTE ISCHEMIC DAMAGE RECOVERY:AFTER 3-5 MONTHS

  26. INCREASED INCIDENCE OF ENTRAPMENTNEUROPATHY D M IS FOUND IN 8-12%PATIENTS WITH CTS—25%DM PATIENTS HAVE ELECTRODIAGNOSTIC CTS—8%SYMPTOMATIC RISK OF CTS---WOMEN 2/2 MEN 2/5 TIMES REASON ? ISCHEMIA ORHYPOXIA ENTRAPMENT----- POSSIBILITY OF DM

  27. LABORATORY FINDINGS ; CONFIRMATION OF DM:RANDOM BS>200mg FBS>126mg/dl 2hpp>200mg/dl IGT---- BS=140-200 FBS=110-126 mg/dl EMG&NCV ABNORMALITIES S>M D>P LEG>HAND PATHOLOGY:SMALL VESSEL OCCLUSION—IMMUNE MEDIATE—LOSS OF MYELINATED FIBERS—AXONAL DEGENERATION

  28. PAINLESS DISTAL D N----LARGE FIBER PAINFUL DISTAL D N-----SMALL FIBER PATHOGENESIS OF D N: NERVE BLOOD FLOW- ENDONEURIAL VASCULAR RESISTANCE– MYOINOSITOL-ACTIVATE POLYOL PATHWAY------ALDOSE REDUCTASE)-ACCUMULATION OF SORBITOL&FRUCTOSE-AUTOOXIDATION -ENDONEURIAL HYPOXIA:IMPAIRMENT OF AXONAL TRANSPORT&REDUCE NERVE NA-K ATP ASE ACTIVITY----- AXONALATROPHY

  29. TREATMENT OPTIMAL GLUCOSE CONTROL INSULIN PUMP----AT 5 YEARS REDUCE 64% PANCREAS TRANSPLANTATION PREVENTS OF DN MYOINOSITOL ? ALBERSTATIN ? LIPOIC ACID----IMPROVED SENSORY SYMPTOMS(AND ALSO C PEPTIDE) VEGF----- NERVE BLOOD FLOW

  30. IV METHYL PREDNISOLONE—IVIG SYMPTOMATICOH:6-10 INCHES HEAD ELEVATED—DRINKING TWO CUPS OF COFEE—EATING MORE FREQUENT SMALL MEALS—DAILY FLUID INTAKE&SALT INGESTION(10-20gr/d)-ELASTIC BODY STOCKING-FLUDROCORTISONE(/1-/6mg/d) NSAIDS(IBUPROFEN)-PHENLPROPANOLAMINE-METOCLOPRAMIDE-TETRACYCLINE OR ERYTHROMYCIN-CLONIDIN

  31. G U COMPLICATIONS-----UROLOGIST FREQUENT VOIDING-MANUAL ABDOMINAL COMPRESSION-INTERMITTENT CATHATERIZATION—SILDENAFIL-PROPER SKIN CARE

  32. Management of neuropathic pain 30-50% reduction of pain ASA-acetaminophen-NSAIDs TCA block of serotonin &NE reuptake amitriptyline(10-25mg)-desiprmine nortriptyline SSRI are less effective

  33. Venlafaxine has fewer side effect than TCA 150-225 mg/day Duloxetine 60-120 mg/day moderate effect Bupropion 300 mg/day 30%reduced pain Anticonvulsants: Carbamazepine 1000-1600mg/day Oxcarbazepine 1200mg/d

  34. Gbapentin300mg/d--------900-3600mg/d Pregabalin150-600mg/d Topiramate has minor effect Lamotrigine200-400mg/d moderate relief Mexiletine (oral analog of lidocaine) ? Tramadol 200-400mg/d Dextromethorphan high dose---partial relief ataxia-sedation

  35. Narcotic analgesics should be limited Topical agents: capsaicin cream o.o25 or o.o75 patches containing 5% lidocain

  36. G. B .S Non seasonal illness M>F 1.5/1 1.8/100000 Preceding event 2/3 of patients(1-4weeks before) URI,GI infection,surgery,immunization CMV-EBV-VZ Hepatitis A&B H.FLU Campylobacter jejuni 26%

  37. SYMPTOMS& SINGNS -Weakness+paresthesis Ascends proximally over Hours to several days DTR Progression 1-4 weeks Cranial nerve palsy 45-75% Facial paresis usually bilateral

  38. BIH(rarely) -Facial myokymia Respiratory failure 12-30% Sensory loss Pain 85% Pharingeal-cervical-brachial variant Autonomic dysfunction 65%

  39. LAB FINDINGS CSF EMG& NCV LFT(transient)33% Hyponatremia Hematuria &proteinuria MRI of LS

  40. D.D* Porphyria-Diphtheria-Intoxication(arsenic-thallium)-Hypokalemia-Hypophosphatemia-Myopathy-Tic paralysis-Botulism-Brain stem stroke-Spinal cord compression-Transverse mtelitis-Polyomyelitis TREATMENT* Respiratory support-Heparin-IVIG-Plasma exchange-Symptomatic therapy- PT

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