Neuromuscular Disease: A Case-Based Approach PDF
Preview Neuromuscular Disease: A Case-Based Approach
Neuromuscular Disease: A Case-Based Approach Neuromuscular Disease: A Case-Based Approach John H.J. Wokke ProfessorofNeurology,DepartmentofNeurologyandNeurosurgery,RudolfMagnusInstituteofNeuroscience, UniversityMedicalCenterUtrecht,theNetherlands Pieter A. van Doorn ProfessorofNeuromuscularDisorders,DepartmentofNeurology,ErasmusMC,UniversityMedicalCenterRotterdam,theNetherlands Jessica E. Hoogendijk Neurologist,DepartmentofNeurology,RudolfMagnusInstituteofNeuroscience,UniversityMedicalCenterUtrecht,theNetherlands Marianne de Visser ProfessorofNeuromuscularDisorders,DepartmentofNeurology,AcademicMedicalCenterAmsterdam,theNetherlands cambridge university press Cambridge,NewYork,Melbourne,Madrid,CapeTown, Singapore,SãoPaulo,Delhi,MexicoCity CambridgeUniversityPress TheEdinburghBuilding,CambridgeCB28RU,UK PublishedintheUnitedStatesofAmericabyCambridgeUniversityPress,NewYork www.cambridge.org Informationonthistitle:www.cambridge.org/9780521171854 ©JohnH.J.Wokke,PieterA.vanDoorn,JessicaE.Hoogendijk,andMariannedeVisser Thispublicationisincopyright.Subjecttostatutoryexception andtotheprovisionsofrelevantcollectivelicensingagreements, noreproductionofanypartmaytakeplacewithoutthewritten permissionofCambridgeUniversityPress. Firstpublished2013 PrintedandboundintheUnitedKingdombytheMPGBooksGroup AcataloguerecordforthispublicationisavailablefromtheBritishLibrary LibraryofCongressCataloguinginPublicationdata Neuromusculardisease:acase-basedapproach/JohnH.J.Wokke...[etal.]. p. ; cm. Includesbibliographicalreferencesandindex. ISBN978-0-521-17185-4(pbk.) I. Wokke,JohnH.J.,1952– [DNLM: 1. NeuromuscularDiseases–diagnosis–CaseReports. 2. NeuromuscularDiseases–therapy–Case Reports. 3. Diagnosis,Differential–CaseReports.WE550] 616.8–dc23 2012035669 ISBN978-0-521-17185-4Paperback Additionalresourcesforthispublicationatwww.cambridge.org/9780521171854 CambridgeUniversityPresshasnoresponsibilityforthepersistenceor accuracyofURLsforexternalorthird-partyinternetwebsitesreferredto inthispublication,anddoesnotguaranteethatanycontentonsuch websitesis,orwillremain,accurateorappropriate. Everyefforthasbeenmadeinpreparingthisbooktoprovideaccurateandup-to-dateinformationwhichisinaccordwith acceptedstandardsandpracticeatthetimeofpublication.Althoughcasehistoriesaredrawnfromactualcases,everyefforthas beenmadetodisguisetheidentitiesoftheindividualsinvolved.Nevertheless,theauthors,editorsandpublisherscanmakeno warrantiesthattheinformationcontainedhereinistotallyfreefromerror,notleastbecauseclinicalstandardsareconstantly changingthroughresearchandregulation.Theauthors,editorsandpublishersthereforedisclaimallliabilityfordirector consequentialdamagesresultingfromtheuseofmaterialcontainedinthisbook.Readersarestronglyadvisedtopaycareful attentiontoinformationprovidedbythemanufacturerofanydrugsorequipmentthattheyplantouse. Contents Preface pagevii Abbreviations ix Introduction:approachtothepatient 1 Case17 Multifocalmotorneuropathy 65 Case18 Peripheralnervehyperexcitability Section 1 Motor neuron diseases syndrome,Morvan’ssyndrome 68 Case19 Vasculiticneuropathy 70 Case1 Classicamyotrophiclateral sclerosis 23 Case20 Neuropathyandataxiacaused byimmunoglobulin-M Case2 Amyotrophiclateralsclerosiswith gammopathy 71 frontotemporaldementia 29 Case21 Polyneuropathy,organomegaly, Case3 Primarylateralsclerosis 31 endocrinemanifestations,monoclonal Case4 Progressivemuscularatrophy 33 protein,andskinchanges 74 Case5 Kennedydisease 35 Case22 Subacutesensoryparaneoplastic neuropathyandganglionopathy 76 Case6 Spinalmuscularatrophytype3, Kugelberg–Welanderdisease 36 Case23 Neurolymphomatosis 78 Case7 Postpoliomyelitissyndrome 39 Case24 Diabeticpolyneuropathy 80 Case8 Spinalduralfistula 41 Case25 Alcoholicneuropathy 82 Case26 Humanimmunodeficiencyvirus Section 2 Neuropathies neuropathy 83 Case9 Charcot–Marie–Toothdisease Case27 Lymeradiculoneuritis 85 type1A 45 Case28 Lepromatousneuropathy 88 Case10 Hereditaryneuropathywithliabilityto Case29 Toxiciatrogenicneuropathy 90 pressurepalsy 48 Case30 Idiopathicneuralgicamyotrophy 92 Case11 Charcot–Marie–Toothdiseasetype2A, mitofusinopathy 50 Case31 Smallnervefiberneuropathy 94 Case12 X-linkedCharcot–Marie–Tooth Case32 Criticalillnesspolyneuropathy 96 disease 52 Case33 Chronicidiopathicaxonal Case13 Hereditarysensoryandautonomic polyneuropathy 99 neuropathytype4 54 Case14 Guillain–Barrésyndrome 56 Section 3 Neuromuscular Case15 Miller–Fishersyndrome 60 junction disorders Case16 Chronicinflammatorydemyelinating Case34 Classicmyastheniagravis 103 polyneuropathy 62 v Contents Case35 Myastheniagraviswithautoantibodies Case48 Late-onsetcongenitalmyopathy tomuscle-specifickinase 107 causedbyamutationintheRYR1 gene,centralcoredisease 139 Case36 Lambert–Eatonmyasthenic syndrome 108 Case49 Bethlemmyopathy 141 Case37 Congenitalmyasthenicsyndrome, Case50 Myotonicdystrophytype1, slowchannelsyndrome 111 Curschmann–Steinertdisease 143 Case51 Myotonicdystrophytype2,proximal Section 4 Myopathies myotonicmyopathy 145 Case52 Beckermyotonia,chloride Case38 Beckermusculardystrophy 115 channelopathy 146 Case39 Caveolinopathy,includinglimbgirdle Case53 Glycogenstoragediseasetype2, musculardystrophytype1C 119 Pompedisease 148 Case40 Limbgirdlemusculardystrophytype Case54 Glycogenstoragediseasetype5, 2A,calpainopathy 120 McArdledisease 150 Case41 Limbgirdlemusculardystrophytype Case55 Mitochondrialdisease:progressive 2I,fukutin-relatedprotein deficiency 122 ophthalmoplegia 153 Case42 Emery–Dreifussmuscular Case56 Myositis 156 dystrophy 125 Case57 Sporadicinclusionbodymyositis 159 Case43 Facioscapulohumeraldystrophy 127 Case58 Sarcoidmyopathy 161 Case44 Miyoshidistalmyopathy,dysferlin Case59 Hypothyroidmyopathy 164 myopathy 128 Case45 Distalmyopathywithrimmed vacuoles,hereditaryinclusion bodymyopathy 133 Videolegends 166 Index 168 Case46 Oculopharyngealmuscular dystrophy 136 Case47 Myofibrillarmyopathies 137 vi Preface Neuromuscular diseases are a fascinating aspect of It has been calculated that about 1% of the popu- neurology. Careful history taking and dedicated neu- lation suffers from a neuromuscular disease, but on rologicalexaminationgenerallyenabletheclinicianto the whole, individual diseases are rare. Many neuro- localize the disease within the nervous or muscular muscular patients have to live with the consequences system, and to make a clinical and differential diag- for the rest of their lives. In 2010, the costs of direct nosis. Measuring blood values, such as glucose level healthcare, direct nonmedical support, and indirect andcreatinekinaseactivity,andothereasilyaccessible costs due to neuromuscular diseases, irrespective of ancillary tests, like electromyography, nerve conduc- whowasfootingthebill,wereestimatedtoamountto tion studies, and imaging tools, help to refine that 7.7 billion euro in 30 European countries, equivalent diagnosis. toabout1%ofthetotalcostsforallneurologicaland Inmanypatientswithasuspectedneuromuscular mentaldisorders.1Patientsare,therefore,entitledtoa disorder,thenextstepsmayincludeadvancedanalysis timelydiagnosisandtreatmentadvice,sothatsociety ofskeletalmusclebiopsies,usingimmunohistochem- canstillprovidethemeans. istryandWesternblotstocharacterizeawiderangeof During medical training, most doctors will learn proteins, and a rapidly expanding number of genetic littleabouttheserare,butcharacteristicandincapaci- tests. There has been a spectacular advance in know- tating diseases, and will not recognize the manifesta- ledge of hereditary neuromuscular diseases over the tions. An exceptional example is an experienced past decade. The discovery of manifold genes and general practitioner (GP) who observed an elderly mutations has led to a considerable broadening of woman from his practice cycling with a dropped phenotypesthatformanewchallengefortheclinician. head.Onexamination,henotedonlyadroopingeye- Generally speaking, the diagnostic process is lid.Whenshecomplainedofintermittentdiplopia,he rewarding,aspatientswanttohearwhatthediagnosis correctly suggested a diagnosis of classic myasthenia is. Usually, a diagnosis comes as a relief. Once the gravis. In contrast, GBS will be easily recognized by diagnosis has been made, patients and their families most GPs. At the other end of the spectrum, chronic canbeinformedaboutprognosis,presenceofheredi- diabeticneuropathyisverycommonandcanbediag- tary aspects, and treatment that can be given. nosedeasily.Evenneurologistsmayfindthediagnos- Treatment options include immunosuppression, ticprocessofaneuromusculardiseasecumbersome. immunomodulation,oracombinationinawidespec- We, therefore, decided to write a pragmatic and trum of immune-mediated neuromuscular diseases accessible clinical guide, not opting for completeness ranging from a progressive disease such as Guillain– orforacomprehensivetextbookofwhichmanyexcel- Barrésyndrome(GBS)toamorechronicdiseaselike lentexamplesexist. classic myasthenia gravis. Pompe disease is the first In this book we focus upon adult patients with a hereditarymetabolicneuromusculardiseaseinwhich neuromuscular disease. In addition, we present some it was found that enzyme replacement therapy can cases of patients with an alternative diagnosis that induce improved function. Trials with exon-skipping could mimic an acute or chronic neuromuscular dis- treatmentinDuchennemusculardystrophyhavebeen order. We do not present cases of children with a introduced into the clinic. The effects of noninvasive neuromusculardiseasealbeitthatsomeofourpatients respiratory support and devices that help to preserve hadinitialcomplaintsinlateadolescence. functionandqualityoflifecannotbeunderestimated. Mosttreatmentsareeffectiveonlyifgivenatanearly 1 OlesenJ,GustavssonA,SvenssonM,etal.Theeconomiccostsof vii stage.Thisisespeciallytrueiftheonsetisacute. braindisordersinEurope.EurJNeurol2012;19:155–162. Preface First,wepresentanoverviewofsymptoms,signs, Visser with the intensive care neuropathy case. characteristic features, and common phenotypes. Professor Jan Verschuuren helped with the anti- Next, we present 59 examples of neuromuscular dis- MuSK myasthenia gravis and the Lambert–Eaton eases.Westartwiththecasehistoriesofpatientsfrom myasthenic syndrome cases. The residents Annette our practices. We discuss early signs, ancillary inves- CompterandEstherVerstraetehelpedwiththefigures tigations,diagnosis,anddiseasecourseandtreatment ofthepatientswithLymeradiculoneuritisandamyo- strategies.InthesectionGeneralremarks,wepresenta trophiclateralsclerosisandfrontotemporaldementia, brief summary of current knowledge about the respectively, and Christiaan Sarisfilmed theBabinski causeandtreatmentofdiseases,andaboutepidemio- and Chaddock signs. Professor Jan van Gijn kindly logical data. The many tables are a way of clarifying provided the figures of the patient with a neurogenic what we judge to be most important in a particular thoracic outlet syndrome. Dr. Wim Spliet, neuro- topic. References are selected with emphasis on pathologist, provided some fine illustrative figures of reviews or landmark papers. Where necessary, we musclebiopsies.Dr.AnnekevanderKooi,neurologist, refertopracticeparameters,guidelines,andinforma- and an enthusiastic reading group consisting of resi- tivewebsites. dents,SefanjaAchterberg,AysunAltinbas,Mariekevan Werealizethatthefieldofmoleculargeneticdiag- Oijen, Stephan Wens, and Beatrijs Wokke, furnished nosis of neuromuscular disorders is moving rapidly. invaluablecommentsthatkeptourfeetontheground. New genes and mutations are continuously being Weareextremelygratefultothemall. discoveredandfunctionsofgenesandproteinsunrav- Mostimportantly,wethankourpatients,someof elled. Where possible, we present the current data whomwehaveknownforover20years,whoformthe andtrytoexplainmechanismsofdisease.Thereader basisofthisbook.Theyhavehelpedustoexpandour is advised to check with websites for the most recent knowledge. We also thank them for their willingness data. tohelpwiththeillustrations.Onephotographorvideo OurfellowneurologistsProfessorLeonardvanden canteachcliniciansmorethanpagesoftext.Wehope Berg and Drs. Wim Linssen, Nicolette Notermans, ourselectionofillustratingcasesofpatientswithneu- Willem Oerlemans, W. Ludo van der Pol, Jan romuscular diseases will motivate our readers to join Veldink, and Alexander Vrancken commented upon usinatourthroughthispartofthefascinatingfieldof individualcases.Oureminentclinicalneurophysiolo- neurology,theneuromusculardiseases. gistDr.HesselFranssencommenteduponthepresen- tation of electrophysiological data and supplied the December2012 figures on needle electromyography in Case 4 and Utrecht,Rotterdam,andAmsterdam,theNetherlands the decremental response in the classic myasthenia JohnWokke gravis case. Professor Baziel van Engelen and Dr. PietervanDoorn Nens van Alfen helped with the case of the patient JessicaHoogendijk with idiopathic neuralgic amyotrophy, and Dr. Leo MariannedeVisser viii Abbreviations ACE angiotensin-convertingenzyme EMG needleelectromyography AChR acetylcholinereceptor ERT enzyme-replacementtherapy A-CIDP acute-onsetchronicinflammatory ESR erythrocytesedimentationrate demyelinatingpolyneuropathy FALS familialALS AD autosomaldominant FDG-PET fluorodeoxyglucose–positronemission AIDP acuteinflammatorydemyelinating tomography polyneuropathy FSHD facioscapulohumeraldystrophy ALS amyotrophiclateralsclerosis FTD frontotemporaldementia AMAN acutemotoraxonalneuropathy GAA acidalpha-glucosidase AMSAN acutemotorandsensoryaxonal GBS Guillain–Barrésyndrome neuropathy GSD glycogenstoragedisease AR autosomalrecessive GP generalpractitioner BMD Beckermusculardystrophy HE hematoxylinandeosin CB conductionblock HIV humanimmunodeficiencyvirus CIAP chronicidiopathicaxonal HNA hereditaryneuralgicamyotrophy polyneuropathy HNPP hereditaryneuropathywithliabilityto CIDP chronicinflammatorydemyelinating pressurepalsies polyneuropathy HPA hypothalamus–pituitary–adrenal(axis) CIM criticalillnessmyopathy HSAN hereditarysensoryandautonomic CIP criticalillnesspolyneuropathy neuropathy CK creatinekinase HSMN hereditary sensory and motor CMAP compoundmuscleactionpotential neuropathy CMT Charcot–Marie–Tooth HSP hereditaryspasticparaplegia CMV cytomegalovirus HTLV humanT-celllymphocytotropicvirus CNS centralnervoussystem IBM inclusionbodymyositis CPEO chronicprogressiveexternal ICU intensivecareunit ophthalmoplegia IENF intraepidermalnervefiber CRP C-reactiveprotein INA idiopathicneuralgicamyotrophy CSF cerebrospinalfluid IVIg intravenousimmunoglobulins CT computedtomography KSS Kearns–Sayresyndrome DM myotonicdystrophy LEMS Lambert–Eatonmyasthenicsyndrome DMD Duchennemusculardystrophy LGMD limbgirdlemusculardystrophy DML distalmotorlatency LMN lowermotorneuron DRG dorsalrootganglion LOS lipo-oligosaccharides DSP distalsymmetricpolyneuropathy MADSAM multifocalacquireddemyelinating EBV Epstein-Barrvirus sensoryandmotor(neuropathy) EDS excessiveday-timesleepiness MAG myelin-associatedglycoprotein EGRIS ErasmusGBSRespiratoryInsufficiency mEGOS modifiedErasmusGBSOutcomeScale Scale MERRF myoclonusepilepsywithragged ELIZA enzymelinkedimmunosorbentassay redfibers ix EM erythemamigrans MFN2 mitofusin2 Abbreviations MFS Miller–Fishersyndrome POEMS polyneuropathy,organomegaly, MGUS monoclonalgammopathyof endocrinopathy,M-protein,andskin undeterminedsignificance changes MMN multifocalmotorneuropathy POLG polymerasegamma MMSE Mini-MentalStateExamination PPS postpoliomyelitissyndrome MMT manualmuscletesting PROMM proximalmyotonicmyopathy,myotonic MNCV motornerveconductionvelocity dystrophictype2 MND motorneurondisease PSMA progressivespinalmuscularatrophy MNGIE mitochondrialneurogastrointestinal RCT randomizedcontrolledtrial encephalomyopathy SALS sporadicamyotrophiclateralsclerosis MPZ myelinproteinzero SANDO sensoryataxicneuropathywith M-protein monoclonalprotein dysarthriaandophthalmoparesis MRC MedicalResearchCouncil SCA spinocerebellarataxia MRI magneticresonanceimaging SCLC small-celllungcancer MS multiplesclerosis SDAVF spinalduralarteriovenousfistula MUP motorunitpotential SFN smallfiberneuropathy MuSK muscle-specifickinase sIBM sporadicinclusionbodymyositis NARP Neuropathy,ataxia,andretinitis SMA spinalmuscularatrophy pigmentosa SMN survivalmotorneuron(gene) NINDS NationalInstituteofNeurological SNAP sensorynerveactionpotential DisordersandStroke SSRI selectiveserotoninreuptakeinhibitor NIV noninvasiveventilation TRF treatment-relatedfluctations NMJ neuromuscularjunction TSH thyroidstimulatinghormone NSAID nonsteroidalanti-inflammatorydrug ULN upperlimitofnormal OPMD oculopharyngealmusculardystrophy UMN uppermotorneuron PCR polymerasechainreaction VC vitalcapacity PE plasmaexchange VEGF vascularendothelialgrowthfactor PEG percutaneousendoscopicgastrostomy VEP visualevokedpotential PLS primarylateralsclerosis VGCC voltage-gatedcalciumchannel PMA progressivemuscularatrophy VGKC voltage-gatedpotassiumchannel PMP22 peripheralmyelinprotein22 WNV WestNilevirus x
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