Movement disorders Yvonne Benešová Department of Neurology LFMU and FN Brno Extrapyramidal system nStructures involved in the management of the motor function Influences the regulatory motor circulus in the spinal cord, brain stem, cerebellum, cortex It consists of basal ganglia- nuclei of grey matter in the depths of the hemispheres nnucleus caudatus, putamen, globus pallidus, nucleus subthalamicus, substantia nigra Connection to stem structures and cortex Transmiters ndopamine, acetylcholine, GABA, glutamate Extrapyramidal system Extrapyramidal system n nControl muscle tone n nCreating synkinesis nCreate and control automatic movements nControl of mimic and pantomimic Movement disorders nA disorder which impairs the regulation of voluntary motor activity without directly affecting strength, sensation or cerebellar function n nSometimes also known as “extrapyramidal disorders” nMany neurologists restrict the term “extrapyramidal” to refer only to Parkinsonism Extrapyramidal syndromes Movement disorders, basal ganglia disorders nParkinson syndrome Hypokinetic-rigide Hypokinetic-hypertonic nigrostriate system nAbnormal-involuntary movements Hyperkinetic – dyskinesis, dystonia Tremor, chorea, dystonia, myoclonus, tic Abnormal and involuntary movements nDystonia-muscle tone discoordination nInvoluntary contraction of muscles nTrunk muscles - twisting movement around own axis while walking n nDyskinesis-involuntary movements Chorea-fast, free effort uncontrollable jerky movements, especially at UE nAthetosis – slow, tonic, twisting serpentine movements-dis n. caudatus n Types of abnormal movement nChorea nBallismus nAthetosis nMyoclonus nDystonia nTics nTremor n Huntington disease nPrevalence, genetics n4-8/100 000 nHD gene - short arm of chr. 4 (4p16.3) nAutosomal dominant transfer nHuntingtin protein is missing nFunction is unclear n A role in cytoskeletal anchoring or transport of mitochondria n Huntington disease nProgresive hereditary disorder n nChorea+ dementia+personality disorder nNcl. caudatus + putamen most affected nDecrese of GABA and enkephalin→ gl. pallidus not inhibited= chorea nIncrease Dopamine nOther parts of brain also involved-subcortical nglutamic acid decarboxylase N-methyl-d-aspartat reduced Signs and symptoms nAppear 30-50 yrs (5-70) nChorea+dementia+ personality changes nOnset is gradual nClumsiness, dropping of objects, neglect of duties, hyperkinesis nChorea-progressive from fingers to limbs nSway of trunk, falls down Signs and symptoms nApatia, dementia nIrresponsible behavior, agresivity nPrefrontal syndrome n nLater on dystonia and rigidity nVegetative dysfunction nInsomnia, loss of weight nLasting 15 years and more n Laboratory data nCT, MR: enlarged ventricles (butterfly appearance of the lateral ventricles), or striatal hyperintensity on TW2 MRI nAtrophy nGenetic examination n nTreatment nNot known nSymptomatic: antidpresants,antipsychotics n Syndenham chorea St.Vitus dance, chorea minor nDisease of childhood (5-15) 2/100 000 nAutoimunne disorder nComplication of previous infection of A beta hemolytic streptococcus nIncidence had fallen dramatically nAcute/subacute onset, tics, dystonia nMay have behavioural problems, usually benign disease, remits spontaneously, complete recovery nNo specific treatment, PNC, IVIG, plasmaferesis Senile chorea nOlder than 60 nVascular encefalopathy nPutamen, ncl subthalamicus nHemichorea, hemibalismus nNo mental problems nMight be a variant of HD nNo therapeutic measures are neded nRemision Chorea gravidarum n nChorea of any cause that begins in pregnancy nMay represent recurrence of Sydenham’s chorea nMost commonly associated with anti-phospholipid sy, +/- SLE nUsually resolves spontaneously n Myoclonus nMyoclonus “sudden, brief, shock-like involuntary movements” nPositive myoclonus nMay be caused by active muscle contraction n nNegative nMay be caused by inhibition of ongoing muscle activity eg. Asterixis Myoclonus nFocal, segmental, generalised nGeneralised - widespread throughout body nFocal / segmental – restricted to particular part of body nRare isolated events, many in each minute n nUsually stimulus-sensitive (noise, movement, visual threat, touch, light n Myoclonus nCan arise from lesions anywhere in the CNS nCortical – sensomotor cortex nSubcortical-brainstem, thalamus nSegmental (e.g.oculo-palato-pharyngeal) or generalised (reticular myoclonus) nSpinal nOculo-palato-pharyngeal myoclonus: lesion in Guillain-Mollaret triangle nwhich arises due to any lesion that interrupts pathway between n.dentatus,ruber, inferior, oliva n Etiology nPhysiologic - nocturnal (usually on falling sleep jerk, hiccups) nEssential- Occurs in the absence of other abnormality Benign and sometimes inherited familial, sporadic- is nonprogressive nEpileptic - demonstrable cortical source n nSymptomatic widespread encephalopathies- viral, degenerative,metabolic, toxic, posthypoxic nOpsoclonus-myoclonus (encephalopathy in infants, postviral sy, paraneoplastic sy) n n n Etiology nSecondary to disease process nNeurodegenerative eg. Wilson’s disease nInfectious - CJD, viral encephalitis nToxic - penicillin, antidepressants nMetabolic - anoxic brain damage, hypoglycemia, nhepatic failure “ asterixis”,renal failure hyponatremia… n nTREATMENT nAnticonvulsans- clonazepam,valproic acid n5-hydroxytryptophan n n Tics nRecurrent, sterotyped abnormal movements nSimple brief jerks to a complex pattern of rapid, coordinated, involuntary movements nMay be shortly suppressed voluntarily or with distraction- then even worse nVoluntary suppression leads to anxiety and a build-up of internal unrest nWorsen under stress nVocal tics are typical n n Gilles de la Tourette syndrome nOnset n2-15 years nBegin in the face and neck nSpread to limbs nExplosive sounds (barking, throat clearing, foul utterances- coprolalia) nTS - plus Attention Deficit Hyperactivity Disorder - ADHD Obsedative compulsion disorder n File:Georges Gilles de la Tourette cleanup.jpg Prevalence nEstimated 0,05-3% general population nMany very mild cases (Mozart) nMany resolve spontaneously by adult life nNo specific morphologic changes in the brain on necropsy nNo mental retardation, high inteligence, memory n nTreatment nIn mild cases no treatment nClonidin, clonazepam, dopamine antagonists and depleters- more effective- more adverse events n Dystonia nAfter parkinsonism most commonly n nDystonia -condition in which the patient assumes a sustained, abnormal posture or limb position n nDue to co-contraction of agonist and antagonist muscles in the part of body n Dystonia nSymptomatic (90%) nIdiopathic: torsion dystonia n nfocal→segmental→generalized nIn advanced disease- contractions become constant n nPrevalence 30/100 000 nFocal 50% nSegmental dystonia 30% n n Idiopatic torsion dystonia nBegins between ages 5-15 nIn legs and arms on walking nBizzare stepping or bowing gait nLater spasms in neck and face, difficulty in speech nProgression extremely variable nMental activity remains normal Adult onset dystonia nWriter´s cramp: Dystonic posturing of arm when hand used to perform specific tasks e.g. writing, playing piano nTorticollis: Tendency of neck to twist to one side nBlepharospam: involuntary forceful closure of eyes nOromandibular dystonia nLingual dystonia nSpastic dysphonia n Pathology of dystonia nNot known, no morphologic changes nProblaby biochemical abnormalities in BG,genetically determied (noradrenalin, serotonin) n n Blepharospasm nContraction of the mm.orbicularis oculi nSometimes the closure is forcefull, could be intermittent nWorse by walking and by bright light nCocontration of the lower facial muscles (Meige syndrome) nBegins after age 50 nBotulotoxin injection more than 80% effect n Writer´s cramp nLimited to one limb (usually dominant) nPt should learn to write with nondominant hand nBotulotoxin is efficient n n Symptomatic dystonia nWilson disease nEncephalitis lethargica nHallervorden-Spatz disease nTraumatic hemidystonia (or infarction) nTardive dystonia nPerinatal trauma nBrain tumours