Nerves and Muscles diseases - neurologiadziecieca.wum.edu.pl€¦ · Guillain–Barré syndrome...

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Nerves and Muscles diseases Diagnosis and management

Transcript of Nerves and Muscles diseases - neurologiadziecieca.wum.edu.pl€¦ · Guillain–Barré syndrome...

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NervesandMusclesdiseasesDiagnosisandmanagement

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NEUROPATHY• distalweakness• concomitantsensorysymptoms+signs• reflexeslostearly• +/-fascicula:ons• nocontractures• notassociatedwithmyocardialdysfunc:onnormuscletenderness

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Mononeuropathy

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Mononeuropathy

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Neuropathy:•  1/mononeuropathy-traumaorcompression–deficitsreflecttheanatomicdistribu:onofthenerve(forexamplecarpaltunnelsyndrome)

•  2/polyneuropathy:symmetrical,featuringweakness,numbness,pins-and–needles,burningpain,itusuallybeginsinthehandsandfeet(“stockingandglove”paHern)andmayprogresstothearmsandlegs,lossordecreaseofreflexes,

•  autonomicdisturbances(orthosta:chypotension,incon:nence,impotence,swea:ngabnormali:es)

•  Causes:diabetesmellitus,uraemia,hypothyroidism,rheumatologicdisease,medica:ons(chemotherapy),toxins(alcohol)vitaminsdeficiencies(Bvitamin),hereditaryneuropathies(Charcot–Marie–Toothdisease)

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FACIALNERVE(N.VII)PARALYSIS:•  Thepathwayofthefacialnerveislongandrela:velyconvoluted,andsothereareanumberofcausesthatmayresultinfacialnerveparalysis.

•  ThemostcommonisBell’spalsy,anidiopathicdiseasethatmayonlybediagnosedbyexclusion.

•  Facialnerveparalysismaybedividedintosupranuclearandinfranuclearlesions.

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SUPRANUCLEARandnuclearlesions-centralfacialpalsycanbecausedbyalacunarinfarctINFRANUCLEARLESIONS• characterisedbyunilateralfacialweakness,lossoftaste,hyperacusisanddecreasedsaliva:onandtearsecre:on.Symptomsmaydevelopoverseveralhours.

• Acutefacialpainradia:ngfromtheearmayprecedetheonsetofothersymptoms.

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Causes:•  Herpes,•  O::smedia,•  Lymedisease(causedbyBorreliaburgdorferiinfec:on-speciallyinendemicareas)

•  Fracturesofthetemporalbone•  Diabetesmellitus,sarcoidosis,• Moebiussyndrome(extremelyrare)-isabilateralfacialparalysisresul:ngfromtheunderdevelopmentoftheVIIcranialnerve(facialnerve),whichispresentatbirth.TheVIcranialnerveisalsoaffected,sopeoplewithMoebiussyndromecannotformfacialexpressionormovetheireyesfromsidetoside.

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Investigationanddiagnosis:• Medicalhistory,neurologicalexamina:on,laryngologicalexamina:onwithaudiometryandtympanometry

• Bloodtests,Borrelia,CToftemporalbone,

• Treatment:steroids,vitB,rehabilita:on

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Guillain–Barrésyndrome(GBS)

•  Acutepolyneuropathy•  rapid-onsetmuscleweaknessasaresultofdamagetotheperipheralnervoussystem,alsochangesinsensa:onorpainisreportedbythepa:ent-bothsidesequally,cranialnerveisinvolvedin50%

•  thesymptomsdevelopoverhalfadaytotwoweekstoreachthemaximum,thenplateauphasethenimprovement

•  duringtheacutephase,thedisordercanbelife-threateningwithaboutaquarterdevelopingweaknessofthebreathingmusclesandrequiringmechanicalven:la:on

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•  Someareaffectedbychangesinthefunc:onoftheautonomicnervoussystem,whichcanleadtodangerousabnormali:esinheartrateandbloodpressure

•  Thisisautoimmunediseasecausedbythebody'simmunesystemmistakenlyaHackingtheperipheralnervesanddamagingtheirmyelininsula:on(veryo^enistriggeredbyaninfec:onofupperrespiratorysystemordiarrhoea3-6weeksbeforeorvaccina:on).

•  Molecularmimicry-theproduc:onofan:bodiesa^eraninfec:on-theimmunesystemisreac:ngtomicrobialsubstancesbuttheresultantan:bodiesalsoreactwithsubstancesoccurringnaturallyinthebody.

•  Causes:Campylobacterjejuni,CMV,Varicellazoster,Mycoplasmapneumoniae,influenzavirus,Zika-virus

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DifferenttypesofGuillain–Barrésyndromefeaturedifferenttypesofimmuneattack:•  1/thedemyelina:ngvariant(AIDP)featuresdamagetothemyelinsheathbywhitebloodcells(Tlymphocytesandmacrophages)thisprocessisprecededbyac:va:onofagroupofbloodproteinsknownascomplement

•  2/theaxonalvariantismediatedbyIgGan:bodiesandcomplementagainstthecellmembranecoveringtheaxonwithoutdirectlymphocyteinvolvement

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DIAGNOSIS:

•  1/Thesignsandsymptoms(rapiddevelopmentofmuscleparalysis,absentreflexes,neurologicalexamina:on:reducedpowerandreducedorabsenttendonreflexes(hypoorareflexia)

•  2/examina:onofcerebrospinalfluid:“albuminocytologicaldissocia:on”-increasedofspinalfluidproteinconcentra:onbutanormalcellcount

•  Despitethis,theCSFisunremarkablein50%ofpeoplewithGuillain–Barrésyndromeinthefirstfewdaysofsymptoms,and80%a^erthefirstweek;therefore,normalresultsdonotexcludethecondi:on

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•  3/nerveconduc:onstudiesandelectromyography–demieliniza:onor/andaxonalabnormali:esButinthefirsttwoweeks,theseinves:ga:onsmaynotshowanyabnormalitysoneurophysiologystudiesarenotrequiredforthediagnosis

•  4/MRIofthespinalcord-enhancementofthenerveroots

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Type Symptoms PopulaConaffected NerveconducConstudies

AnCgangliosideanCbodies

AcuteinflammatorydemyelinaCng

polyneuropathy(AIDP)

Sensorysymptomsandmuscle

weakness,o^enwithcranialnerveweaknessandautonomicinvolvement

MostcommoninEuropeandNorth

America

Demyelina:ngpolyneuropathy

(âCV)

Noclearassocia:on

Acutemotoraxonalneuropathy(AMAN)

Isolatedmuscleweaknesswithout

sensorysymptomsinlessthan10%;cranialnerveinvolvement

uncommon

RareinEuropeandNorthAmerica,substan:al

propor:on(30–65%)inAsiaandCentralandSouthAmerica;some:mescalled"Chineseparaly:c

syndrome"

Axonalpolyneuropathy(âamplitude),normal

sensoryac:onpoten:al

GM1a/b,GD1a&GalNac–GD1a

Acutemotorandsensoryaxonalneuropathy

(AMSAN)

SeveremuscleweaknesssimilartoAMANbutwithsensoryloss

MillerFishersyndrome

Ataxia,eyemuscleweakness

(ophtalmoplegia),areflexiabutusuallynolimb

weakness

Thisvariantoccursmorecommonlyinmenthaninwomen(2:1ra:o).Cases

typicallyoccurinthespringandtheaverageageof

occurrenceis43yearsold

Generallynormal,some:mesdiscretechangesinsensoryconduc:onor

H-reflexdetected

GQ1b,GT1a

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Treatment:•  1/Immunotherapy:plasmapheresisandintravenousimmunoglobulins(IVIg)bothareequallyeffec:ve,butIVIgisusuallyusedfirstinprac:ce

•  IVIgtotaltherapy2g/kg-0,4g/kg/x5doses•  2/Painmedica:on•  3/Rehabilita:on•  4/Mechanicalven:la:on/Intensivecare-incaseofRespiratoryfailure

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•  usuallyproximalweakness•  usuallynosensorydeficit•  reflexespreservedun:llate•  fascicula:onabsent•  contracturesusuallypresent•  maybeassociatedwithmyocardialdysfunc:onormuscletenderness

MYOPATHY

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•  Musculardystrophies•  Myotonia•  Congenitalmyopathieswithmicroscopicchanges(nemalinemyopathy-withnemalinerods,minicoremyopathy,centronuclearmyopathy)

•  Mitochondrialmyopathy-defectsinmitochondria,whichprovideacri:calsourceofenergyformuscle

•  Metabolicmyopathies(glycogenosis,lipidoses)

Inheritedformsofmyopathy:

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•  ThepaHernofBMDsymptomdevelopmentresemblesthatofDMDbutwithalater,andmuchslowerrateofprogression.

•  anX-linkedrecessiveinheriteddisorder(carrierfemales,affectedboys)

•  amuta:onofthedystrophingeneatlocusXp21,locatedontheshortarmoftheXchromosome

•  whichcodesfortheproteindystrophin•  Dystrophinisanimportantcomponentwithinmuscle:ssuethatprovidesstructuralstabilitytothedystroglycancomplexofthecellmembrane.

Duchennemusculardystrophy(DMD)Becker’smusculardystrophy(BMD)

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Muscular Dystrophy

In affected muscle (right) the tissue becomes disorganized and the concentration of dystrophin (green) is

greatly reduced, compared to normal muscle (left)

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•  Boysareaffected,firstsignsabout3-4yearsofold•  Frequentfalls•  Fa:gue•  Difficultywithmotorskills(running,hopping,jumping)•  Troublegerngupfromlyingorsirngposi:on•  Aposi:veGower’ssignreflectsthemoresevereimpairmentofthelowerextremi:esmuscles.Thechildhelpshimselftogetupwithupperextremi:es:firstbyrisingtostandonhisarmsandknees,andthen"walking"hishandsuphislegstostandupright.

Signs:

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Gowers' sign

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•  Lumbarhyperlordosis•  MusclecontracturesofAchillestendon•  Progressivedifficultywalking•  Musclefibredeformi:es•  Pseudohypertrophy(enlarging)oftongueandcalfmuscles.Themuscle:ssueiseventuallyreplacedbyfatandconnec:ve:ssue,hencethetermpseudohypertrophy.

•  Higherriskofneurobehavioraldisorders(e.g.,ADHD),learningdisorders(dyslexia),andnon-progressiveweaknessesinspecificcogni:veskills(inpar:cularshort-termverbalmemory),whicharebelievedtobetheresultofabsentordysfunc:onaldystrophininthebrain.

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•  Eventuallossofabilitytowalk(usuallybytheageof12)

•  Skeletaldeformi:es(scoliosis)•  Abnormalheartmuscle(dilatedcardiomyopathy)•  Conges:veheartfailureorirregularheartrhythm(arrhythmia)–EchocardiographyandECGisrequired

•  Respiratorydisorders,includingpneumoniaandswallowingwithfoodorfluidpassingintothelungs(inlatestagesofthedisease)

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•  DNAtest:Themuscle-specificisoformofthedystrophingeneiscomposedof79exons,andDNAtes:ngandanalysiscanusuallyiden:fythespecifictypeofmuta:onoftheexonorexonsthatareaffected.DNAtes:ngconfirmsthediagnosisinmostcases.

•  Prenataltestpossible•  Musclebiopsy•  Crea:ninekinase(CPK-MM)levelsinthebloodstreamareextremelyhigh

•  EMG–myogenicchangesbutnotspecificforDMD

DIAGNOSIS:

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•  Treatmentisgenerallyaimedatcontrollingtheonsetofsymptomstomaximizethequalityoflife,andincludethefollowing:

•  cor:costeroidsincreaseenergyandstrengthanddeferseverityofsomesymptoms

•  Mildphysicalac:vitysuchasswimmingisencouraged;inac:vitycanworsenthemuscledisease

•  Physicaltherapyishelpfultomaintainmusclestrength,flexibility,andfunc:on

•  Orthopedicappliances(suchasbracesandwheelchairs)mayimprovemobilityandtheabilityforself-care.Form-firngremovablelegbracesthatholdtheankleinplaceduringsleepcandefertheonsetofcontractures

•  Appropriaterespiratorysupportasthediseaseprogressesisimportant

•  Cardiologiccare(echo,ECG,HolterECG)

Treatment:

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•  externalsubstanceinducedmyopathy:druginduced(sta:ns,glucocor:coid),alcoholic,othertoxicagents

• dermatomyosi:s• polymyosi:s

Acguiredformsofmyopathy:

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Feature Neuropathic Myopathic

DistribuConof

weakness

Distal Proximal

Reflexes Absent UsuallyPresent

Sensoryloss Usuallypresent Absent

Atrophy Present Absentun:llate

CPK Normal Elevated

NerveconducCon

Velocity

Usuallydecreased Normal

EMG Fibrilla:onsand

fascicula:ons

Smallmotorunits

Musclebiopsy Groupatrophy Irregular,necro:cfibers

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MYASTENIAGRAVIS:

• fluctua:ngmuscleweaknessandfa:gue•  Inthemostcommoncases,muscleweaknessiscausedbycircula:ngan:bodiesthatblockacetylcholinereceptorsatthepostsynap:cneuromuscularjunc:on,inhibi:ngtheexcitatoryeffectsoftheneurotransmiHeracetylcholineonnico:nicreceptorsatneuromuscularjunc:ons.

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Myastheniagravissigns:•  Apokamnosis-Themuscleweaknessbecomesprogressivelyworseduringperiodsofphysicalac:vity,andimprovesa^erperiodsofrest.

•  Inabouttwo-thirdsofindividuals,theini:alsymptomofMGisrelatedtothemusclesaroundtheeye.Theremaybeeyeliddrooping(ptosis-weaknessoflevatorpalperbaesuperioris)anddoublevision(diplopiaduetoweaknessoftheextraocularmuscles)

•  Dysphagia,dysarthria,hypophonia•  Facialweakness-manifes:ngasinabilitytoholdthemouthclosed(the"hangingjawsign")

•  Inamyastheniccrisis-aparalysisoftherespiratorymuscles

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Myastheniagravisdiagnosis:• Serology-testforan:bodiesagainsttheacetylcholinereceptor,oran:bodiesagainsttheMuSKprotein

• CTMRofmedias:num-Myastheniaassociatedwiththymoma

• EMG-singlefibretest

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Myastheniagravismanagement:• acetylcholinesteraseinhibitorstodirectlyimprovemusclefunc:onandimmunosuppressantdrugstoreducetheautoimmuneprocess.

• ThymectomyisasurgicalmethodtotreatMG.

• Myastheniacrisis-plasmapheresis,IVIg

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Weaknessduetomotorneurondisease:•  SMA(spinalmuscularatrophy)

•  Autosomalrecessivediseasecausedbyagene:cdefectintheSMN1gene,whichencodesSMNSMNisapparentlyselec:velynecessaryforsurvivalofmotorneurons,asdiminishedabundanceoftheproteinresultsinlossoffunc:onofneuronalcellsintheanteriorhornofthespinalcordandsubsequentsystem-widemusclewas:ng

•  Areflexia•  Muscleweakness,poormuscletone-“Floppybabysyndrome”•  Difficultyachievingdevelopmentalmilestones,difficultysirng/standing/walking

•  Lossofstrengthoftherespiratorymuscles:weakcough,weakcry(infants)

•  Fascicula:on•  serumcrea:nekinase(CK)maybenormalorincreased•  gene:ctes:ngwillshowbi-allelicdele:onofexon7oftheSMN1gene

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ThankYou