WhatisDystonia?

Dystoniaisaverycomplex,highlyvariableneurologicalmovementdisordercharacterizedbyinvoluntary
musclecontractionsorspasms.Anestimated500,000peopleintheUnitedStateshavebeendiagnosed
withDystoniawithanestimated500,000yettobediagnosedormisdiagnosed,makingitthethirdmost
commonmovementdisorderbehindessentialtremorandParkinsonsdisease.Itisadisorderthat
knowsnoage,ethnic,religious,sexual,orsocioeconomicbarriersitcanaffectyoungchildrentoolder
adultsofallraces,creeds,ethnicities,orsocialstatus.
Dystoniaresultsfromabnormalfunctioningofthebasalganglia,adeeppartofthebrainwhichhelps
controlcoordinationofvoluntarymovementandinhibitionofinvoluntarymovements.Thisregionof
thebraincontrolsthespeedandfluidityofmovementandpreventsunwantedmovements.Becausethis
importantbasalgangliafunctionisalteredinDystonapatients,theyexperiencesimultaneous
contractionsofopposingmusclegroups,resultinginabnormalpostures,twistingorrepetitive
movements.Thesecanaffectanypartofthebody,includingthehands,feet,arms,legs,trunk,neck,
face,eyesandvocalcords.Symptomsmayornotbeobvioustothecasualorevenatrainedobserver.
Dependingontheaffectedbodypart,Dystoniacanseriouslyimpactdailyfunctions.Forexample,ifneck
musclesareaffected,apatientmayhavedifficultywithbalance,posture,chewing,orswallowing.In
somecases,Dystoniamayalsobequitepainful.Thoughnotlifethreatening,theinvoluntarynatureof
thedisordermaybeembarrassing,causingemotionaldistressordepressioninsomeindividuals.The
AmericanDystoniaSocietyhasanonlineDystonianetworkingsitetoprovidepeersupportatADS
CommunityCenterthatcanhelpaddresssomeoftheseissues,butpatientsmayneedtobetreated
separatelyformentalhealthissuescausedbythechallengesofcopingwiththisdisorder.
DystoniaClassification
Dystoniaisclassifiedbythreemainfactors:theageatwhichsymptomsdevelop;theareasofthebody
affected;andtheunderlyingcause.
ThechancethatDystoniawillaffectmultiplebodypartsisgenerallylinkedtotheageofonset.The
youngeroneisatonset,thegreaterthechancethatsymptomswillspread.Conversely,theolderoneis
atonset,themorelikelythatthedisorderwillremainmoremoderate.
DystoniaClassificationByAge
EarlyOnset0toage28
Adultonsetolderthanage28

DystoniaClassificationByBodyPart
FocalDystoniaislimitedtooneareaofthebody,andcanaffecttheneck(CervicalDystoniaor
SpasmodicTorticollis,Retrocollis,Anterocollis,orLaterocollis),eyes(Blepharospasm),jaw/mouth/lower
face(OromandibularDystonia),vocalcords(LaryngealDystoniaorSpasmodicDysphonia),orarms/legs
(LimbDystonia).OtherlesscommontypesoffocalDystoniascancauseunusualstretching,bending,or
twistingofthetrunk(TruncalDystonia)orsustainedcontractionsandinvoluntary,writhingmovements
oftheabdominalwall(AbdominalWallDystonia).
FocalDystoniamorecommonlyaffectspeopleintheir40sand50sandisfrequentlyreferredtoasadult
onsetDystonia.Womenarediagnosedaboutthreetimesmorefrequentlythanmen.Ingeneral,focal
Dystoniasareclassifiedasprimary(idiopathic)andarenothereditary.
SegmentalDystoniaaffectstwoormorepartsofthebodythatareadjacentorclosetooneanother.Up
to30percentofpeoplewithfocalDystoniahavespasmsinareasadjacenttotheprimarysite.A
commonformofsegmentalDystoniaaffectstheeyelids,jaw,mouth,andlowerfaceandiscalledcranial
Dystonia.
OthertypesofDystoniaincludemultifocal,whichinvolvestwoormorebodypartsdistantfromone
another;HemiDystonia,whichaffectshalfofthebody;andgeneralized,whichbeginswithleg
involvement,butgenerallyspreadstooneormoreadditionalregionsofthebody.
DystoniaClassificationByCause
Primary(idiopathic)Dystoniaistheonlysign,andsecondarycauseshavebeenruledout.Mostprimary
Dystoniasarevariable,haveadultonset,andarefocalorsegmentalinnature.However,thereare
specificprimaryDystoniaswithchildhoodoradolescentonsetthathavebeenlinkedtogenetic
mutations.
ThemajorityofearlyonsetprimaryDystonias,whichmayappearduringchildhoodorearlyadulthood,
areduetomutationsofageneknownasDYT1.Thisgenehasbeenmappedtothelongarmof
chromosome9at9q34.1.Inabout90to95percentofcases,symptomsbegininalimbandthenspread
tootherregionsofthebody.ThisformofDystoniahasanaverageageofonsetof12andseldom
developsafterage29.
DYT6DystoniaisanautosomaldominantprimaryDystoniathathasbeenmappedtochromosome8
(8p21q22).ItisrarerthanDYT1DystoniaandhasbeenstudiedintwoMennonitefamiliesintheUnited
States.InnearlyallindividualswiththisformofDystonia,thedisorderbeginsataninitialsitebut
spreadstomultiplebodyregions,mostcommonlythelimbs,head,orneck.Severedifficultieswith
speecharticulationhavebeennoted.
OtherfamilialprimaryDystoniasidentifiedareDYT2,DYT3,DYT4,andDYT7,allofwhichhavebeen
notedinspecificethnicgroups,primarilyofEuropeandescent.DYT3isspecifictoasinglefamilylinein
thePhilippines.


Secondary(symptomatic)Dystoniathatresultsprimarilyfromsecondarycauses.Theseinclude
environmental,suchasexposuretocarbonmonoxide,cyanide,manganese,ormethanol;underlying
conditionsanddiseasessuchasbraintumors,cerebralpalsy,Parkinsonsdisease,stroke,multiple
sclerosis,hypoparathyroidism,orvascularmalformations;brain/spinalcordinjuries;inflammatory,
infectious,orpostinfectiousbrainconditions;andspecificantipsychoticmedications.
DystoniaplussyndromesDystoniathatresultsfromnondegenerative,neurochemicaldisorders
associatedwithotherneurologicalconditions.DystoniaplussyndromesincludeDopaResponsive
Dystonia(DRD)orSegawasyndrome,rapidonsetDystoniaParkinsonism(RDP),andMyoclonus
Dystonia.
HeredodegenerativeDystoniaDystoniathatgenerallyresultsfromneurodegenerativedisordersin
whichotherneurologicalsymptomsarepresentandinwhichheredityplaysarole.Theseinclude
numerousdisorderssuchascertainXlinkedrecessive,autosomaldominant,autosomalrecessive,
and/orparkinsoniansyndromes.Includedinthiscategory:XlinkedDystoniaparkinsonism(Lubag),
Huntington'sdisease,Wilson'sdisease,neuroacanthocytosis,Rettssyndrome,Parkinson'sdisease,and
juvenileparkinsonism.
Symptoms
Dystoniaissometimesmisdiagnosedasstressinducedpains,astiffneck,backpain,
TemporomandibularJointDisorder(TMJ),orapsychogenicdisorderwithpsychologicaltriggers.The
intermittentcharacterofthedisordermayleadmedicalpractitionerstoconcludethatapsychogenic
disorderiseithertheprimarycauseoranunderlyingfactor.DiagnosisisdifficultbecauseDystonia
symptomsaresimilartothoseofmanyotherconditionsandaresovariableinnature.Stresslevelsalso
affectstheseverityandfrequencyoftheDystoniasymptomsbutisnotaprimarycauseofDystonia.
Dystoniainitiallyarisesafterspecificmovementsortasks,butinadvancedstagesitmayoccuratrest.It
usuallyaffectsthesamegroupofmuscles,thuscausingapatternofmovementsovertime.Itgenerally
developsgradually,withlocalizedsymptomssuggestingthepresenceofthedisorder.Eyeirritation,
excessivesensitivitytobrightlight,orincreasedblinkingmaybeanindicationofBlepharospasm.Subtle
facialspasmsortics,difficultychewingorswallowing,orchangesinspeechcadencemayindicate
OromandibularorLaryngealDystonia.Crampingofthehandduringwritingorperformingataskspecific
motionlikeplayingamusicalinstrumentisassociatedwithWriter'sCramp(Graphospasm)orMusician's
Dystonia,whilecrampingorfatiguedoingeverydaytasks(preparingfood,walking)mayoccurwithother
formsofDystonia.
Dystoniaisalsovariableinitsprogression.Forsomepatients,thedisordersteadilyworsens;forothers,
itplateaus.Forsome,Dystoniastabilizesatarelativelyminorstageandprogressesnofurther.The
advancedstageismarkedbyrapidandinvoluntaryrhythmicmovements,twistingpostures,contortions
ofthetorso,abnormalgait,orfixedposturaldeformities.


Thedisordermayleadtovaryingdegreesofpainanddysfunction.CervicalandotherDystoniasthat
affectthespinecanbedebilitatingandpainfulduetodegenerationofthespineandirritationofnerve
roots.Headachesmayalsooccur.LimbDystoniamaynotcausepaininitiallybutmaybecomepainful
overtime.Uncontrolledmusclemovementsmaycausethejointstodeteriorate,eventuallyleadingto
theonsetofarthritis.Tendonsandligamentsmayalsobeaffected,contributingtoissueswithtendonitis
andtendonosis.
Treatment
ThereisathreetieredapproachtotreatingDystonia:BotulinumToxin(botox)injections,severaltypes
ofmedication,andsurgery.Thesemaybeusedaloneorincombination.MedicationsandBotulinum
Toxin(Botox,Dysport,Myobloc,orXeomin)canbothhelpblockthecommunicationbetweenthenerve
andthemuscleandmayalleviateabnormalmovementsandpostures.
BotulinumtoxintypeA(Botox)wasdevelopedinthe1980s.ThenewerTypeAtoxinsDysportand
Xeominweredevelopedinthe1990s.In2001,theU.S.FoodandDrugAdministrationapproved
BotulinumToxintypeB(Myobloc)fortreatmentofCervicalDystonia.Researcherscreatedthenewdrug
aftersomepatientsbegandevelopingresistancetothetypeAform.XeominisasecondgenerationType
Atoxinthathasaverylowbacterialproteinloadthatreducestheriskofdevelopingresistance.Thetype
Btoxin(Myobloc)hasmildtomoderatesideeffectssuchasdrymouth,dysphagia(difficultyswallowing)
andindigestion.BotulinumToxintreatmentsarereversibleastheeffectswearoffgenerallyafter810
weeks.
Surgeryisconsideredwhenothertreatmentshaveprovenineffective.Thegoalofsurgeryistointerrupt
thepathwaysresponsiblefortheabnormalmovementsatvariouslevelsofthenervoussystem.Some
operationspurposelydamagesmallregionsofthethalamus(thalamotomy),globuspallidus
(pallidotomy),orotherdeepcentersinthebrain.Theseproceduresareirreversibleandmustbe
consideredcarefully.Deepbrainstimulation(DBS)hasbeentriedrecentlywithsomesuccessandis
generallyreversible.Otherirreversiblesurgeriesincludecuttingnervesleadingtothenerverootsdeep
intheneckclosetothespinalcord(anteriorcervicalrhizotomy)orremovingthenervesatthepoint
theyenterthecontractingmuscles(selectiveperipheraldenervation).
Thebenefitsofsurgeryshouldalwaysbeweighedcarefullyagainstitsrisks.AlthoughsomeDystonia
patientsreportminortosignificantsymptomreductionaftersurgery,thereisnoguaranteethatsurgery
willhelpeveryindividual.DBShasgainedwidespreadacceptanceandpositivepublicitylatelybutno
dataonsuccessrateshaveyettobepublished.