1 / 62

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

flower
Télécharger la présentation

IN THE NAME OF GOD

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related