By

Dr. A.V. SRINIVASAN, M.D,D.M,PhD,DSc,FRCP(London),F.I.A.N,F.A.A.N.

EMERITUS PROFESSOR THE TAMIL NADU DR MGR MEDICAL UNIVERSITY

CHENNAI Former Professor and HEAD, INSTITUTE OF NEUROLOGY MADRAS MEDICAL COLLEGE

A CLINICAL APPROACH TO MOVEMENT DISORDERS-NEUROLOGIST

PERSPECTIVES

CORTEX

PUTAMEN

D2Enk

D1Sub P

GLOBUS PALLIDUS EXTERNA

SUBSTANTIA NIGRAPARS COMPACTA

SUB THALAMIC NUCLEUS

GLOBUS PALLIDUS INTERNA

PEDUNCULO PONTINE NUCLEUS

THALAMUSINDIRECT PATHWAY

DOPA

DOPA

GABA -

GLUTAMATE+

GLUTAMATE+

GLUTAMATE+

GABA

DI

RECT PATHWAY

NIGRA RETICULATA

BRAIN STEM

GLUT

AMATE

GABA

GABA

GABA

GLUTAMATE

GABA

SUB.

P

PREVALENCE OF MOVEMENT DISORDERSEssential tremor 415 (Haerer et al.,

1982)Parkinson’s disease 187 (kurland, 1958)Tourette’s syndrome 29-1052 (Caine et al., 1988)Dystonia 33 (Nutt et al., 1988)Hereditary ataxia 6 (Schoenberg, 1978)Huntington’s disease2-12 (Harper, 1992)Wilson’s disease 3 (Reilly and Hutchinson,

1993)Progressive supra-

nuclear palsy 2 (Golbe, 1994)

Rate are given per 100,000 population. For Parkinson’s disease, the rate is 347 per 100,000 for ages over 40 years (Schoemberg et al, 1985).

THE HIERARCHICAL LEVELS FOR RECOGNIZING THE VARIOUS DYSKINESIAS

Level A.Rhythmical Vs. Arrhythmical.Sustained Vs. Non-sustaine.Paroxysmal Vs. Continual Vs. Continuous.Sleep Vs. AwakeLevel BAt Rest Vs. with Action

THE HIERARCHICAL LEVELS FOR RECOGNIZING THE VARIOUS DYSKINESIAS

Level C Patterned Vs. non-patterned Speed : Slow vs. fast Amplitude : Ballistic vs. not ballistic Force : Powerful (painful) vs. easy-to-overcome Suppressibility Vocalizations Self mutilation Complex movements Combinations of varieties of movements Sensory component Continual means over and over again: continuous

means unbroken.

Table –2: DIFFERENTIAL DIAGNOSIS OF RHYTHMICAL AND ARRHYTHMICAL HYPERKINESIASRHYTHMICAL VS. ARRHYTHMICAL

Tremor Akathitic movemntsResting AthetosisPostural BallismAction ChoreaIntention DystoniaDystonia Tremor Hemifacial spasmDystonia myorhythmia Hermifacial spasm

Tabel –2: DIFFERENTIAL DIAGNOSIS OF RHYTHMICAL AND ARRHYTHMICAL HYPERKINESIASRHYTHMICAL VS. ARRHYTHMICAL

Myoclonus, segmental Arrhythmic myoclonus

Epilepsia partialis continua StereotypyMyoclonus, Oscillatory TicsMoving toes/fingersMyorhythmiaPeriodic movements in sleepTardive dyskinesia (tardive stereotypy)

TABLE – 3: DIFFERENTIAL DIAGNOSIS OF SUSTANED HYPERKINESIAS

SUSTAINED CONTRACTIONS VS. NON-SUSTAINED

OR POSTURES CONTRACTIONRigidity All othersDystoniaCculogyric crisisParoxysmal dystoniaDystonic ticsSandifer’s syndromStiff – personNeuromyotoniaCongenital torticollisOrthopedic torticollis

TABLE – 4 DIFFERENTIAL DIAGNOSIS OF PAROXYSMAL AND NON-PAROXYSMAL HYPERKINESIS

Tics Ballism Athetosis

PKC Chorea Tremors

PDC Chorea Tremors

PDC Dystonic movemnts

Dystonic postures

Paroxysmal ataxia Myoclonus, arrhythmic

Myoclonous, rhythimic

Paroxysmal tremor

Stereotypy Tardive Stereotypy

Hypnogenic dystonia

Myokymia Tic status Jumpy stums

PAROXYSMAL VS . CONTINUAL VS. CONTINUOUS

TABLE – 5: DIFFERENTIAL DIAGNOSIS OF HYPERKINESIS THAT ARE PRESENT WHILE ASLEEP OR AWAKE

Hypnogenic Dyskinesias Palatal myoclonus All others Periodic mvts in sleep Ocular myoclonus Oculofacinomasticatory Myorhythmia Myokymia

APPEARS DURING SLEEP VERSISTS DURING SLEEP DIMINISHERS DURING SLEEP

TABLE – 6 : DIFFERENTIAL DIAGNOSIS OF HYPERKINESIAS THAT ARE PRESENT AT REST OR WITH ACTION

At rest only (disappears with action) Akathitic movemnts Paradoxical dystonia* Resting tremor Restless legs Orthostaic tremor*With action only Tremor, postural, action, intention Action dystonia Action myoclonus

TABLE – 6 : DIFFERENTIAL DIAGNOSIS OF HYPERKINESIAS THAT ARE PRESENT AT REST OR WITH ACTION

At rest and continues with action Athetosis Ballism Chorea Dystonia at rest* Jumpy stumps Moving toes/fingers Myoclonus at rest* Myokymia Pseudodystonias* Tics

TABLE 7: THE LOWEST HIERARCHICAL LEVELS IN DIFFERENTIATING THE HYPERKINESIS

PATTERNED NON-PATTERNED (I.E. SAME MUSCLE GROUPS) Dystonia All others Hemifacial spasm Moving toes/fingers Segmental myoclonus Myorhythmia Myokymia Tardive stereotypy Temor

SPEED : FAST VS SLOW

FASTEST INTERMEDIATE SLOWEST Myoclonus Chorea Athetosis Hyperekplexia Ballism moving toes/fingers Hemifacial spasm Jump stumps Myorhythmia Tremors Alkathitic movements Tradive Streotypy

AMPLITUDE: BALLISTIC VS NOT BALLISTIC Ballism Chorea and all others Jumpy stumps would be ballistic, but short Stump keeps the amptitude relatively small

Step 1Step 1 What are the Movements ?Step 2Step 2 Identify the overall syndromeStep 3Step 3 Decide the disease/Syndrome pattern

from differential diagnosisStep 4Step 4 If not, is it Odd dyskinesias?Step 5Step 5 Emphasis on clinical clues and

diagnostic pathwayStep 6Step 6 If primary movement disorder –

Principle investigationsStep 7Step 7 General PlanStep 8Step 8 Investigations for Symptomatic

Movement DisordersStep 9Step 9 Additional tests in specific clinical

syndromesStep 10Step 10 Guidelines for Movement Disorders in

children/Young Adults

STEP 1 – WHAT ARE THE MOVEMENTS

1. AKINETIC OR DYSKINETIC TREMOR JERKS Myclonus Chorea Tic SPASMS Dystonia Rhythmic / arhythmic

Stereo typed / in consistant Continous Action Paroxysms

STEP 2 – IDENTIFY WHAT IS THE OVERALL SYNDROME

Akinetic rigid syndrome Dystonic syndrome Choreic syndrome Tic syndrome Myoclonic syndrome

STEP 3 – WHAT IS THE CAUSE ?

Differential diagnosis of various syndrome

See standard text book

STEP 4 – ODD DYSKINESIAS

A. ODDTREMOR

Mid brain tremor Task specific tremor Neuro pathic tremor Dystonic tremor Primary orhtostatic tremor

STEP 4 – ODD DYSKINESIAS

B. ODD JERKS1.FOCAL MYOCLONUSAngio endothelion a s 1 root Toe jerks alone2.CORTICAL MYOCLONUSEncephalitis Jerks of posture Action myoclonus Stimulus sensitive myoclonus

STEP 4 – ODD DYSKINESIASB. ODD JERKS3. GIANT SOMATO SENSORYSyrinx Repetitive jerks lower limbs

4. HYPEREXPLEXIA5. ODD SPASMSPLMTHemidystonia

STEP – 5EMPHASIS ON CLINICAL CLUES AND DIAGNOSTIC PATHWAY

Encephalopathy and lowdensity lesions in MRI

No infection – Urea cycle defect mitochonrdial or pyruvate disorder, organic acid disorder

Organomegaly Wilson’s Gaucher’s Niemann Pick disease Galactosaemia

Peripheral Neuropathy Adreno myelo – leucodystrophy GM2 Gangliosidosis Krabbe’s disease

Meta Chromatic leukodystrophy Gaucher’s disease Mucolipidosis Mitochondrial disorders Myoclonus and epilepsy Lafora body disease ceroid lipo fuscinosis GM2

Gangliosidosis Gaucher’s disease Polychstic lipomembranous asteodysplasia Mitochondrial disease.

STEP – 5EMPHASIS ON CLINICAL CLUES AND DIAGNOSTIC PATHWAYMacrocephaly Alexander’s disease metachromatic

leukodystrophy Muscle weakness and wasting Neuronal Intranuclear inclusion

disease Vertical supra Nuclear Palsy Niemann pick disease Gaucher’s Disease Cherry Red spotin Macula Sialidosis GM & GM2

gangliosidosis Memann Pick’s disease Dysmorphic features Mucopolysacridoses

Mucolipodiosis Investigations for primary

movement disorder

STEP – 6INVESTIGATIONS FOR PRIMARY MOVEMENT DISORDERS

Imaging (MRI) Exclusion of Wilson <50) Genentic testing Routine blood wing Biochemistry Syphilis

STEP – 7 GENERAL PLAN Extent of nervous system involvement Psychometric evaluation EEG (epilepti form discharges) ENMG (peripheral neruropathy) EMG and VEP

STEP – 8INVESTIGATIONS IN SYMPTOMATICMOVEMENTDISORDERS METABOLIC AND STORAGE DISORDERS

Metabolic encephalopathies categories and investigation

Metabolic Storage Disorders: Categories And Investigation

Degenerative And Systemic Disorders

STEP 9 : ADDITIONAL TEST TO SPECIFIC CLINICAL SYNDROMS

Smptomatic parkinsonism MSA (Anal or uretheral EMG) MRI – Low density in GB/Putamen MSA / PSP

SYMPTOMAIC TREMORS T3T4 – Thyrotoxicosis Peripheral Neuropathy Paraprotenemias Hg. Poisoning Unilateral tremors – opp. Basal ganglia,

Thalamus, Sub Thalamic body of Luys.

STEP 9 : ADDITIONAL TEST TO SPECIFIC CLINICAL SYNDROMS

SYMPTO, CHOREANeuroacanthocystosis – peripheral smear /CK T3,T4 – Thyrotoxicosis Polycythemia rubravira Calcium and magnesium metabolism Hyponatremia Auto immune disorders Syden ham’s chorea

SLE APLS Struct, lesion of Sub Thalamic Body of luy.

STEP 9 : ADDITIONAL TEST TO SPECIFIC CLINICAL SYNDROMS

SYMPTOMATIC TICNeurocanthocytosis

SYMPOTOMATIC MYOCLONUS

Establish the site of origin n the nervous system by electrophysiology

Lafora body disease Neuronal ceroid lipofuscinosis Sialidosis Mitochondrial disordersUnverricht Lundborg Disease

STEP 9 : ADDITIONAL TEST TO SPECIFIC CLINICAL SYNDROMS

SYMPT. DYSTONIA (RARE) Niemann Pick type C – Bone marow Sea blue histiocytes DRD Sandifer syndrome Atalanto axial subluxation (fixed painful torticollis)SYNDROME WITH CONTINOUS MUSCLE FIBRE

ACTIVITYDetailed ENMG study Episodic or paroxysmal movement disorders Video telemetry EEG / distinquish from epilepsy Paroxysmal spasm – M.S. Intermitant ataxias – Amino acid disorders

STEP 9 : ADDITIONAL TEST TO SPECIFIC CLINICAL SYNDROMS

INVASIVE INVESTIGATIONSSkin biopsy (Axilla) Muscle biopsy Peripheral nerve biopsyBrain biopsy

STEP – 10 :GUIDE LINES FRO MOVEMNET DISORDERS IN CHILDREN /YOUNG ADULTS

CHILDHOOD NEURODEGENERATIVE DISEASES THAT MAY PRESENT IN YOUNG ADULT LIFE WITH A MOVEMENT DISORDER

SPECIAL STUDIES TO BE CONSIDERED IN CHILDREN OR YOUN ADULTS WITH A SYMPTOMATIC MOVEMENT DISORDER

CONCLUSIONCONCLUSIONThe composition in this talk has been for the The composition in this talk has been for the

author a long struggle of escape, and so author a long struggle of escape, and so must the reading of it be for most readers if must the reading of it be for most readers if the author’s assault upon them is to be the author’s assault upon them is to be successful - A struggle of escape from successful - A struggle of escape from habitual modes of thought and expression. habitual modes of thought and expression. The ideas which are here expressed so The ideas which are here expressed so laboriously and extremely simple and should laboriously and extremely simple and should be obvious. The difficulty lies not in the new be obvious. The difficulty lies not in the new ideas, but in escaping from the old ones, ideas, but in escaping from the old ones, which ramify, for those brought up as most which ramify, for those brought up as most of us have been, into every corner of our of us have been, into every corner of our mindsminds

Dedicated to my family for making everything worthwhile

READ not to contradict or confute

Nor to Believe and Take for Granted

but TO WEIGH AND CONSIDER

THANK YOUTHANK YOU