OVERVIEW OF MOVEMENT DISORDERS: Part 2 - Hyperkinesias

OVERVIEW OF MOVEMENT DISORDERS:Part 2 - Hyperkinesias

Stanley Fahn, MDAspen Course

July 2020

OUTLINEOUTLINE• Part 1a - General Overview

– Definitions, Listing of categories, How to examine a pt, Comparative prevalence rates, Advances in genetics

• Part 1b – Hypokinetic disorders – Phenomenology – videotapes

• Part 2 – Hyperkinetic disorders– Tables to help identify the hyperkinesias– Phenomenology - videotapes

• Part 1a - General Overview – Definitions, Listing of categories, How to

examine a pt, Comparative prevalence rates, Advances in genetics



LIST OF MOVEMENT DISORDERSLIST OF MOVEMENT DISORDERSII. HYPERKINESIAS

A. Abdominal dyskinesias

B. Akathitic movements

C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia

K. Hypnogenic dyskinesias

L. Jumpy stumps

M. Moving toes/fingers

N. Myoclonus

O. Myokymia

P. Myorhythmia

Q. Paroxysmal dyskinesias

R. Restless legs/PLMS

S. Stereotypies

T. Tics

U. Tremor

A Guide (set of tables) to Help Recognize and Identify the

Hyperkinetic Category

A Guide (set of tables) to Help Recognize and Identify the

Hyperkinetic Category

Level A: Immediate Impressions1. Rhythmic vs. Arrhythmic2. Sustained vs. Non-sustained3. Paroxysmal vs. Continual vs. Continuous4. Sleep vs. AwakeLevel B: More Prolonged Observations1. At Rest vs. with Action vs. Overflow2. Patterned vs. Non-patterned3. Combinations of varieties of movements


RECOGNIZING THE DYSKINESIASRECOGNIZING THE DYSKINESIAS

Level C: Requiring Longer Observation• Speed: slow vs. fast• Amplitude: ballistic vs. not ballistic• Force: powerful vs. easy to overcome• Suppressibility• Vocalizations• Self-mutilation• Complexity of movements• Sensory component• Ocular movements






RHYTHMIC VS Irregular VSTremor Cortical myoclonus

resting Minipolymyoclonuspostural Dystonic tremorsaction Epilepsia partialis continuaintention Moving toes/fingers

Orthostatic TremorDystonic tremorDystonic myorhythmiaMyoclonus, segmentalMyoclonus, oscillatoryMyorhythmiaPeriodic limb movements in sleepSome stereotypiesClassic Tardive Dyskinesia (T. stereotypy)

RHYTHMIC VS Irregular VSTremor Cortical myoclonus

resting Minipolymyoclonuspostural Dystonic tremorsaction Epilepsia partialis continuaintention Moving toes/fingers

Orthostatic TremorDystonic tremorDystonic myorhythmiaMyoclonus, segmentalMyoclonus, oscillatoryMyorhythmiaPeriodic limb movements in sleepSome stereotypiesClassic Tardive Dyskinesia (T. stereotypy)

RHYTHMIC vs. ARRHYTHMIC MOVEMENTSRHYTHMIC vs. ARRHYTHMIC MOVEMENTSARRHYTHMICAkathitic movementsAthetosisBallismChoreaDystoniaHemifacial spasmHyperekplexiaArrhythmic myoclonusSome stereotypiesTics

ARRHYTHMICAkathitic movementsAthetosisBallismChoreaDystoniaHemifacial spasmHyperekplexiaArrhythmic myoclonusSome stereotypiesTics

Sustained VS Non-sustained• Stiff-person • Rigidity All others• Dystonia• Oculogyric crisis• Paroxysmal dystonia• Dystonic tics• Sandifer syndrome• Neuromyotonia• Congenital torticollis• Orthopedic torticollis

Sustained VS Non-sustained• Stiff-person • Rigidity All others• Dystonia• Oculogyric crisis• Paroxysmal dystonia• Dystonic tics• Sandifer syndrome• Neuromyotonia• Congenital torticollis• Orthopedic torticollis

LEVEL A - #2LEVEL A - #2

LEVEL A - #3LEVEL A - #3PAROXYSMAL VS.TicsPKDPNKDPEDEpisodic ataxiaEpisodic tremorHypnogenic dystoniaParoxysmal dystonia in Self-Stimulatory BehaviorSome stereotypiesAkathitic movementsSome jumpy stumps

CONTINUAL VS.BallismChoreaDystonic movementsMyoclonus, arrhythmicSome stereotypiesAkathitic moaning

CONTINUOUSAbdominal dyskinesiasAthetosisTremorsDystonic posturesMinipolymyoclonusMyoclonus, rhythmicTardive stereotypyMyokymiaTic statusSome jumpy stumps Moving toes/fingersMyorhythmia

infancy

LEVEL A - #4 LEVEL A - #4 APPEARS ONLY DURING SLEEP

PERSISTS DURING SLEEP

DIMINISHES DURING SLEEP

Hypnogenic dyskinesias

Secondary palatal myoclonusOcular myoclonusSpinal myoclonus

Primary palatal

myoclonus

Periodic limb movements in sleep

Oculofaciomastica-tory myorhythmia

Severe dystoniaSevere tics

Peripheral MovDisordMoving toes/fingers

All others

REM Sleep Behavior Disorder

MyokymiaNeuromyotonia

(Isaacs syndrome)

Level A: Immediate Impressions1. Rhythmic vs. Arrhythmic2. Sustained vs. Non-sustained3. Paroxysmal vs. Continual or Continuous4. Sleep vs. AwakeLevel B: More Prolonged Observations1. At Rest vs. with Action vs. Overflow2. Patterned vs. Non-patterned3. Combinations of varieties of movements

Level A: Immediate Impressions1. Rhythmic vs. Arrhythmic2. Sustained vs. Non-sustained3. Paroxysmal vs. Continual or Continuous4. Sleep vs. AwakeLevel B: More Prolonged Observations1. At Rest vs. with Action vs. Overflow2. Patterned vs. Non-patterned3. Combinations of varieties of movements


LEVEL B - #1LEVEL B - #1AT REST ONLY (disappears with action)Akathitic movements Restless legsParadoxical dystonia Orthostatic tremor (only onResting tremor standing) & other posture-

specific tremorsWITH ACTION ONLYAtaxia; Tremor: postural, action, intentionAction dystonia, myoclonus; Task-specific tremor, dystoniaAT REST AND CONTINUES WITH ACTIONAbdominal dyskinesias, Athetosis, Ballism, Chorea, Dystonia at rest, Jumpy stumps, Minipolymyoclonus, Moving toes/fingers, Myoclonus at rest, Myokymia, Pseudodystonias, Tics

AT REST ONLY (disappears with action)Akathitic movements Restless legsParadoxical dystonia Orthostatic tremor (only onResting tremor standing) & other posture-

specific tremorsWITH ACTION ONLYAtaxia; Tremor: postural, action, intentionAction dystonia, myoclonus; Task-specific tremor, dystoniaAT REST AND CONTINUES WITH ACTIONAbdominal dyskinesias, Athetosis, Ballism, Chorea, Dystonia at rest, Jumpy stumps, Minipolymyoclonus, Moving toes/fingers, Myoclonus at rest, Myokymia, Pseudodystonias, Tics

LEVEL B - #2LEVEL B - #2PATTERNED

(i.e., same muscle groups)Abdominal dyskinesiasDystoniaHemifacial spasmMoving toes/fingersSegmental myoclonusMyorhythmiaMyokymiaMost stereotypiesTardive dyskinesia movementsTremor

PATTERNED(i.e., same muscle groups)Abdominal dyskinesiasDystoniaHemifacial spasmMoving toes/fingersSegmental myoclonusMyorhythmiaMyokymiaMost stereotypiesTardive dyskinesia movementsTremor

NON-PATTERNEDAll othersNON-PATTERNEDAll others

LEVEL B - #3LEVEL B - #3COMBINATIONS OF VARIETIES OF

MOVEMENTS (etiologies)Psychogenic movements Tardive syndromesWilson disease Huntington diseaseNeuroacanthocytosis Hered spastic paraplegiasSome dystonias (e.g. parkinsonism, myoclonus)Neurodegenerations with Brain Iron Accumulation Multiple system atrophy (MSA); PSP; FXTASSome spinocerebellar ataxias, esp. SCA-3, FriedreichDentatorubral-pallidoluysian atrophy (DRPLA)Ataxia-telangiectasia (A-T); Lesch-Nyhan syndrome

COMBINATIONS OF VARIETIES OF MOVEMENTS (etiologies)

Psychogenic movements Tardive syndromesWilson disease Huntington diseaseNeuroacanthocytosis Hered spastic paraplegiasSome dystonias (e.g. parkinsonism, myoclonus)Neurodegenerations with Brain Iron Accumulation Multiple system atrophy (MSA); PSP; FXTASSome spinocerebellar ataxias, esp. SCA-3, FriedreichDentatorubral-pallidoluysian atrophy (DRPLA)Ataxia-telangiectasia (A-T); Lesch-Nyhan syndrome




LEVEL C - #1LEVEL C - #1SPEED: FAST VS. SLOWSPEED: FAST VS. SLOW

FASTEST INTERMEDIATE SLOWESTminipolymyoclonus chorea athetosis

myoclonus ballism moving toes/fingers

hyperekplexia jumpy stumps myorhythmia

startle tremors akathiticmovements

hemifacial spasm (HFS) tardive stereotypy hemifacial spasm

HFS can be either myoclonic (fastest) or tonic (slowest) Note: tics and dystonic movements can be of all speeds

LEVEL C - #2 AMPLITUDE:LEVEL C - #2 AMPLITUDE:

LARGE MEDIUM VERY SMALLballism chorea and minipolymyoclonus

all others

jumpy stumps would be ballistic, but a short stump keeps the amplitude relatively small

LARGE MEDIUM VERY SMALLballism chorea and minipolymyoclonus

all others

jumpy stumps would be ballistic, but a short stump keeps the amplitude relatively small

LEVEL C - #3 FORCE :LEVEL C - #3 FORCE :

POWERFUL MEDIUM MILDStiff-person dystonia all othersJumpy stumpsFixed postures of dystonia

POWERFUL MEDIUM MILDStiff-person dystonia all othersJumpy stumpsFixed postures of dystonia

LEVEL C - #4 SUPPRESSIBILITY:LEVEL C - #4 SUPPRESSIBILITY:stereotypies > tics, akathitic movements > chorea >

ballism > dystonia > tremor Not suppressible: hemifacial spasm, myoclonus,

minipolymyoclonus, hyperekplexia, myorhythmia, moving toes

LEVEL C - #5 VOCALIZATIONS:phonic tics: simple or complexakathitic moaningHuntington diseaseneuroacanthocytosiscranial dystonia

stereotypies > tics, akathitic movements > chorea > ballism > dystonia > tremor

Not suppressible: hemifacial spasm, myoclonus, minipolymyoclonus, hyperekplexia, myorhythmia, moving toes

LEVEL C - #5 VOCALIZATIONS:phonic tics: simple or complexakathitic moaningHuntington diseaseneuroacanthocytosiscranial dystonia

LEVEL C - #6 SELF MUTILATION:LEVEL C - #6 SELF MUTILATION:Lesch-Nyhan syndrome, neuroacanthocytosis, Tourette syndrome, psychogenic movement disorders[These are etiologies]LEVEL C - #7 COMPLEX MOVEMENTS:Tics, akathitic movements, compulsions, stereotypies, psychogenic movements(Note: each of the above can also consist of simple

movements)

LEVEL C - #8 SENSORY COMPONENT:Akathisia, moving digits/painful limbs, restless legs, tics

Lesch-Nyhan syndrome, neuroacanthocytosis, Tourette syndrome, psychogenic movement disorders[These are etiologies]LEVEL C - #7 COMPLEX MOVEMENTS:Tics, akathitic movements, compulsions, stereotypies, psychogenic movements(Note: each of the above can also consist of simple

movements)

LEVEL C - #8 SENSORY COMPONENT:Akathisia, moving digits/painful limbs, restless legs, tics

LEVEL C - #9 OCULAR MOVEMENTS LEVEL C - #9 OCULAR MOVEMENTS

Ocular ticsOculogyric crisesOpsoclonusOcular myoclonusOcular myorhythmiaOcular dysmetriaNystagmusSquare wave jerks

Ocular ticsOculogyric crisesOpsoclonusOcular myoclonusOcular myorhythmiaOcular dysmetriaNystagmusSquare wave jerks

OUTLINEOUTLINE• Part 1a - General Overview

– Definitions, Listing of categories, How to examine a pt, Comparative prevalence rates, Advances in genetics



• Part 1a - General Overview – Definitions, Listing of categories, How to

examine a pt, Comparative prevalence rates, Advances in genetics



SHOW VIDEOS OF HYPERKINETIC

DISORDERS

SHOW VIDEOS OF HYPERKINETIC

DISORDERS




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs/PLMS

S. Stereotypies

T. Tics

U. Tremor

Belly Dancer’s DyskinesiaIliceto et al., Mov Disord 1990

25 yoW.Onset 1 yrago during pregnancy




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs

S. Stereotypies

T. Tics

U. Tremor

Faciobrachial Dystonic Seizures

Faciobrachial Dystonic Seizures

• Could be mistaken for segmental dystonia• Are due to an autoimmune encephalitis

caused by the Lgi1 antibody against the voltage gated potassium channel

• Excellent response to corticosteroids• Poor response to anticonvulsants

• Could be mistaken for segmental dystonia• Are due to an autoimmune encephalitis

caused by the Lgi1 antibody against the voltage gated potassium channel

• Excellent response to corticosteroids• Poor response to anticonvulsants

leucine-rich glioma inactivated 1 protein that is part of the Voltage-Gated Potassium Channel complex

Faciobrachial seizures of Lgi1 Antibody limbic encephalitis: video

Faciobrachial seizures of Lgi1 Antibody limbic encephalitis: video




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs

S. Stereotypies

T. Tics

U. Tremor




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


II. HYPERKINESIASA. Abdominal dyskinesias


C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs

S. Stereotypies

T. Tics

U. Tremor

Nat Genet. 2015 Jan;47(1):39-46.

65 yo RHM, with celiac dz. Intermittent twitching of L toes began 8 years ago. 3yrs ago, they involved the whole L foot and then the L calf. Mvts became jerky and were worse when moving the leg or walking, but they also occur when sitting and even lying. The amplitude increased in the last year, interfering with gait and caused several falls. Exam revealed stiffness and jerky mvts of the L leg when he moves it and when it is stimulated. The movement pattern posed a phenomenological challenge. I wondered if this could be cortical myoclonus and decided to admit him for EEG monitoring and also observe him during sleep. EEG showed continual sharp spikes in the paracentral cortex over the leg area, present when the patient was awake and asleep. Discharges preceded involuntary movements at a fixed interval as demonstrated by bipolar surface EMG leads.

Epilepsia PartialisContinua




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs

S. Stereotypies

T. Tics

U. Tremor




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs

S. Stereotypies

T. Tics

U. Tremor

MYORHYTHMIAMYORHYTHMIA• An ambiguous term

• Myorhythmia was initially used to refer to the somewhat rhythmic movements that are sometimes seen in patients with torsion dystonia (coined by Ernst Herz in 1944).

• Its more common usage today refers to prolonged, slow frequency (<3 Hz), relatively rhythmic repetitive movements, as seen in Whipple disease, and semirhythmic myoclonus.

• An ambiguous term

• Myorhythmia was initially used to refer to the somewhat rhythmic movements that are sometimes seen in patients with torsion dystonia (coined by Ernst Herz in 1944).

• Its more common usage today refers to prolonged, slow frequency (<3 Hz), relatively rhythmic repetitive movements, as seen in Whipple disease, and semirhythmic myoclonus.

Whipple diseaseWhipple disease

The next two scenes of myorhythmia show two patients with Whipple disease.

The first has ocular myorhythmia that manifests as pendular vergence

oscillations. The second has synchronous facial-

masticatory-pharyngeal-nuchal-brachial myorhythmia as a feature of rhythmical

segmental myoclonus.

The next two scenes of myorhythmia show two patients with Whipple disease.

The first has ocular myorhythmia that manifests as pendular vergence

oscillations. The second has synchronous facial-

masticatory-pharyngeal-nuchal-brachial myorhythmia as a feature of rhythmical

segmental myoclonus.

Sterotypies in NMDA receptor antibiody

encephalitis

Meige and Feindel [1907] distinguished between

stereotypies and motor tics

Meige and Feindel [1907] distinguished between

stereotypies and motor tics

• Stereotypies, while illogical, are without an irresistible urge.

• Tics are acts that are impelling but not impossible to resist.

Meige H, Feindel E. Tics and Their Treatment. Translated from the French by Wilson SAK. London, Appleton;1907:57-58.

• Stereotypies, while illogical, are without an irresistible urge.

• Tics are acts that are impelling but not impossible to resist.

Meige H, Feindel E. Tics and Their Treatment. Translated from the French by Wilson SAK. London, Appleton;1907:57-58.

Mov Disord. 2012 Feb;27(2):179-85.

Mov Disord. 2012 Feb;27(2):179-85.

A stereotypy is a non–goal-directed movement or vocalization pattern that is repeated continually for a period of time in the same form and on multiple occasions, and which is typically distractible.

Mov Disord. 2012 Feb;27(2):179-85.

A stereotypy is a non–goal-directed movement or vocalization pattern that is repeated continually for a period of time in the same form and on multiple occasions, and which is typically distractible.

Mov Disord. 2012 Feb;27(2):179-85.

A stereotypy is a non–goal-directed movement or vocalization pattern that is repeated continually for a period of time in the same form and on multiple occasions, and which is typically distractible. “and without an urge.”

from Edwards MJ, Lang AE, Bhatia KP. Stereotypies: a critical appraisal and suggestion of a clinically useful definition. Mov Disord. 2012 Feb;27(2):179-85.




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs

S. Stereotypies

T. Tics

U. Tremor




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia




C. Asynergia/ataxia

D. Athetosis

E. Ballism

F. Chorea

G. Dysmetria

H. Dystonia

I. Hemifacial spasm

J. Hyperekplexia


L. Jumpy stumps


N. Myoclonus

O. Myokymia

P. Myorhythmia


R. Restless legs

S. Stereotypies

T. Tics

U. Tremor

FXTASFXTAS

Fragile-X-associated tremor/ataxia syndrome

• Think of this in patients with tremor that resembles Essential Tremor, and has parkinsonian and/or ataxic features.

Fragile-X-associated tremor/ataxia syndrome

• Think of this in patients with tremor that resembles Essential Tremor, and has parkinsonian and/or ataxic features.

Rest, Postural and Action Tremor with impaired tandem gait in FXTAS

Rest, Postural and Action Tremor with impaired tandem gait in FXTAS

• 65 yo RH retired mechanic with 10 year history of hand tremor and 5 year history of imbalance and slurred speech.

• Worsening of tremor in the past 5 years; developed poor balance and slurred speech.

• Now needs help with dressing, shower, cutting his food and other activities of daily living due to profound tremor. To undergo DBS.

• Daughter just had triplets and a screen for fragile X she is a carrier, both boys in the triplets have Fragile X premutation.

• One brother presented with tremor and is now at the age of 55. Another brother has Mental Retardation.

• Patient has a premutation of the Fragile X (FMR1) gene and has FXTAS.

• 65 yo RH retired mechanic with 10 year history of hand tremor and 5 year history of imbalance and slurred speech.

• Worsening of tremor in the past 5 years; developed poor balance and slurred speech.

• Now needs help with dressing, shower, cutting his food and other activities of daily living due to profound tremor. To undergo DBS.

• Daughter just had triplets and a screen for fragile X she is a carrier, both boys in the triplets have Fragile X premutation.

• One brother presented with tremor and is now at the age of 55. Another brother has Mental Retardation.

• Patient has a premutation of the Fragile X (FMR1) gene and has FXTAS.

Time for QuestionsTime for Questions

OVERVIEW OF MOVEMENT DISORDERS: Part 2 - Hyperkinesias

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