Transcript Clinical approach to movement disorders

Clinical approach to movement
disorders
Germán Morís
[email protected]
Servicio de Neurología HUCA
Oviedo Asturias
SPAIN
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Objectives
• Identify the main categories and subtypes of
movement disorders.
• Describe some characteristic of each
movement disorder.
• Show several videos of the main categories.
• Approach to differential diagnosis of
hyperkinetic movement disorders.
Are movement disorders frequent?
• PD, tremor, tics and dystonia, are common
conditions.
• The overall prevalence of PD is 1% in people aged
65–85 years, increasing to 4.3% above the age of
85 years.
• The prevalence of essential tremor is 4% in
people aged over 40 years, increasing to 14% in
people over 65 years.
• The prevalence of tics in school-age children and
adolescents can be as high as 21%.
Clinical presentation
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Complex
Variable
Bizarre.
Establishing the correct diagnosis can be
difficult.
• Accurate recognition based on clinical acumen
is important.
Why is important to make correct
diagnosis? I
• Correct classification of the type of movement disorder
forms the basis for the subsequent diagnostic process.
• No specific biological marker is available.
– Many diagnostic tests are available but these are often
expensive, time-consuming or invasive.
– The diagnostic value of these tests is often limited, especially
in early stages of the disease.
• The investigational work-up can be greatly simplified
once the type of movement disorder has been defined
properly.
• Avoiding the ‘scattergun’ approach.
Why is important to make correct
diagnosis? II
• Adequate diagnosis has prognostic implications.
– Essential tremor and early PD.
• Accurate classification also have implications for
the patient’s family.
• Differentiating between the different types of
movement disorder have important
consequences for treatment.
• Patients with movement disorders can be
diagnosed as having a psychogenic disease.
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Classification
Abdo, W. F. et al. Nat. Rev. Neurol. 6, 29–37 (2010)
Classification
Abdo, W. F. et al. Nat. Rev. Neurol. 6, 29–37 (2010)
Hyperkinetic disorders
• Rhythmical:
– Tremor or tremor-like disorder.
• Not rhythmical
– Stereotyped:
• Slow: dystonia.
• Rapid: motor tic.
– Non-stereotyped:
• Chorea (or its relative, ballismus).
• Myoclonus.
Reich. Semin Neurol 2010;30:15–22.
Other movement disorders
• TARDIVE MOVEMENT DISORDERS: induced by
dopamine receptor blocking drugs, emerging
typically after chronic treatment and often not
remitting, even when the drug is stopped.
• PSYCHOGENIC MOVEMENT DISORDERS:
acute onset, fast progression, movement
patterns incongruent with organic movement
disorders, distractibility, variability and
simultaneous occurrence of various abnormal
movements and dysfunctions.
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Tremor
• Involuntary rhythmic and sinusoid alternating
movements of one or more body parts.
• RHYTHMICITY: the oscillations occur at a
regular frequency.
• Affect almost any body part including the
head, chin and soft palate.
• Tremor often have a variable amplitude but
fixed frequency.
Cogwheeling
• Jerky, brief contractions throughout the entire
range of passive movement (handbrake of a
car).
• The observer feels the underlying tremor,
irrespective of its cause.
• Cogwheeling can be felt in patients with
essential or dystonic tremor and PD.
– There is no additional rigidity (in which case one
speaks of ‘cogwheel rigidity’) or akinesia.
ESSENTIAL TREMOR
PARKINSON´S DISEASE
Longer duration of tremor
before seeking medical attention
Medical attention within 1 year of onset
Positive family history
Autosomal-dominant
15% affected first-degree relative
Response of the tremor to alcohol
NO
Bilateral but asymmetric
Strictly unilateral tremor of the hand or foot
Absent at rest
Activated during maintenance of posture and
movement
Maximally activated at rest
6 to 12 Hz
4 to 6 Hz
Tremor of the head or voice
A tremor of the chin, lips, tongue
Writing is normal size but shaky
Writing is small but atremulous
Rare foot tremor
Frequent foot tremor, especially unilateral
Monosymptomatic disorder
Remainder of the examination is normal
Bradykinesia, rigidity, decreased arm swing,
hypomimia, and hypophonia.
Mixed tremor: rest tremor due to incomplete
relaxation
Mixed tremor: mild asymptomatic postural or
kinetic tremor
Primary orthostatic tremor
• Leg tremor that is present during standing
• A high and pathognomonic tremor frequency
of 14–18 Hz.
• Palpated as a ‘rhythmic shivering’ of the legs,
or can be heard through a stethoscope
(thumping sound like a helicopter).
Wilson’s disease
• Young people with: dystonia, tremor or
dysarthria.
• Diagnosis:
– Ceruloplasmin low in more than 90%.
– Serum copper is not a useful screening test.
– 24-hour urine for measurement of copper.
– Looking for a Kayser-Fleischer ring.
• Autosomal-recessive, siblings may be
asymptomatic but have biochemical evidence of
copper excess.
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Dystonia
• Involuntary abnormal co-contraction of
antagonistic muscles.
• Abnormal characteristic postures and
movements, produced by slow sustained
muscle contraction, which distort limbs, trunk,
neck, face or mouth.
• Sensory trick
– Gently touching the cheek to correct torticollis or
chewing gum to reduce oromandibular dystonia.
Athetosis o distal mobile dystonia
• Slow, writhing and irregular movements of the
distal extremities, with abnormal posturing.
Task specificity dystonia
• The movements or postures are
predominantly or even exclusively present
under specific circumstances: writer’s cramp
or musician’s dystonia.
• CAUTION: in patients with leg dystonia who
have severe difficulty walking forwards but
can walk backwards or run.
• Bring along the relevant equipment, asking
the patient to bring in a home video.
Classification of Dystonia
• Distribution:
– Focal:
• Blepharospasm.
• Cervical dystonia.
• Hemifacial spasm.
– Segmental.
– Multifocal.
– Generalized.
– Hemidystonia.
• Cause:
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Primary.
Dystonia-plus.
Degenerative.
Secondary.
• Age at onset:
• Early < 26.
• Late>26 years.
Generalized dystonia
Testing for DYT1: limb dystonia in a young person
without other nondystonic signs. It is autosomal
dominant but with reduced penetrance.
Types of Dystonia
• Primary dystonia is characterized by the
presence of dystonia only (tremor)
• Secondary dystonia: other clinical features are
present.
• Dystonia-plus syndromes present with a
second and relevant neurological feature:
parkinsonism (dopa-responsive dystonia) or
sometimes ataxia.
Dopa-responsive dystonia
• Autosomal-dominant functional disorder of dopamine.
• Mutation of the enzyme GTP cyclohydrolase, which is
the rate-limiting step in the production of
tetrahydrobiopterin, a cofactor in the metabolism of
dopamine.
• Patients respond to low dosages: 300 mg per day.
• Child with limb dystonia that typically affects walking.
• Diurnal fluctuation.
• Spastic gait, parkinsonism, or cerebral palsy.
• Focal dystonia or parkinsonism in adults.
Dystonic tremor
• When the dystonia is subtle mimic TREMOR
OF PD.
– Arm swing is reduced in dystonia but is not true
akinesia.
– Normal dopamine transporter imaging.
• Or ESSENTIAL TREMOR:
– Subtle dystonic postures :‘ dinner-fork’ posture of
the outstretched hand or a tendency for the ulnar
fingers or thumb to point downwards with the
arms held out.
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Tics
• Recurrent movements stereotyped.
• Tics are preceded by rising discomfort or urge
(sensory tic) that is relieved by the movement
(itch and scratch).
• Tics can suppressed for short periods with inner
tension, leading to a rebound of tics afterwards.
• Predominate in the face, upper arms and neck.
Motor Tics
SIMPLE TICS
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Eye blinking.
Nose wrinkling.
Shoulder shrugging.
Throat clearing.
COMPLEX TICS
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Touching things.
Smelling objects.
Echopraxia.
Jumping.
Phonic tics
• Repetitive
– Sniffs.
– Sounds.
– Words.
– Sentences.
Tics
• Tics are often less prominent in the clinical
examination room.
– Videotaping the patient.
• CAUTION: Dystonic tic:
– The movement or posture might be slow or
prolonged rather than jerky.
Stereotypic movements
• Complex set of movements that are longer lasting,
patterned, repetitive, purposeless and ritualistic.
• Occur repeatedly, more continuous and less
paroxysmal than tics.
• Movements are simple (few maneuvers; rocking or
head banging) or more complex (multiple simple
maneuvers performed together or in sequence).
• Patients with autism, mental retardation, Rett
syndrome, psychosis, or congenital blindness and
deafness.
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Chorea
• Word chorea (Greek for ‘dance’).
• Involuntary movements that are abrupt,
unpredictable and nonrhythmic, resulting
from a continuous random flow of muscle
contractions.
• Movements randomly changes from one body
part to another, conveying the impression of
‘fidgeting’ to the observer.
Chorea: a difficult diagnosis
• Motor impersistence, fluctuating strength of the grip
(milkmaid’s grip), or hung-up reflexes (sustained
contractions and choreatic movements of the leg after
the knee-jerk reflex).
• Finger chorea is best brought out by the individual
counting backwards with their eyes closed and arms
outstretched.
• Patients try to mask their chorea by incorporating the
jerks into voluntary movements.
• Choreatic patients have few subjective complaints,
especially in early stages.
Huntington’s disease
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From childhood to the 80s.
A child may present before the parent is symptomatic.
In late-onset cases, a parent have no findings.
A parent could have died before becoming
symptomatic, or may have been misdiagnosed.
• Dementia, suicide, psychiatric illness, and
institutionalization, particularly in the father because.
• The important point is that HD should be considered in
all cases of chorea.
Ballism
• Same pathophysiology and treatment as Chorea.
• Ballistic movements are uncontrollable, severe,
mainly proximal, large-amplitude choreatic
movements.
• They are usually unilateral (hemiballism), and are
classically described after an acute lesion in the
region of the contralateral subthalamic nucleus.
• Monoballism and bilateral ballistic movements due
to metabolic abnormalities.
Clinical approach to movement
disorders
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Introduction.
Hyperkinetic movement disorders.
Tremor.
Dystonia.
Tics.
Chorea.
Myoclonus.
Myoclonus
• Sudden, brief, shock-like involuntary
movements, which are usually positive
(muscle contraction) or negative (due to brief
loss or inhibition of muscular).
• Rhythmic myoclonus can be mistaken for
tremor.
– Tremor lacks the abrupt and shock-like character.
– Palatal myoclonus/tremor.
Myoclonus
• Focal, multifocal, segmental or generalized.
• Physiological (hypnic jerks), essential
(idiopathic or hereditary), epileptic or
symptomatic.
• Cortical, subcortical, spinal and peripheral.
• Spontaneous (at rest), during movement
(action) or provoked by tactile or acoustic
stimuli (reflex myoclonus).
Mixed movement disorders
Mimics of hyperkinetic MD I
Craniocervical dystonia Limb dystonia
(torticollis)
• Contracture
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Retropharyngeal abscess
• Spasticity
• Atlanto-axial subluxation
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Congenital muscular torticollis
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Correcting head tilt in cranial
nerve palsy (•
ocular torticollis)
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Space-occupying lesion in
posterior fossa
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Sandifer syndrome with head tilt
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Dropped head syndrome in
neuromuscular disease
• Abnormal posture due to paresis
or atrophy
• Myotonia or neuromyotonia
• Sensory ataxia and/or
pseudoathetosis
• Stiff-person syndrome
• Tonic spasms
• Epilepsia partialis continua
Mimics of hyperkinetic MD II
Facial dystonia
• P•tosis or pseudoptosis
• T•rismus
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Hemimasticatory spasm
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Hemifacial spasm (tonic
component)
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Myotonia
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Tetanic spasms
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Apraxia of eyelid opening (levator
inhibition)
Myoclonus
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T•ics
Tremor
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Fasciculations
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Myokymia (involuntary, subtle,
continuous, rippling quivering of
muscles, which does not produce
• movement across a joint)
• Chorea
Treatment hyperkinetic
movement disorders
• Dystonia
– Anticholinergic, baclofen, botulinum toxin, globus pallidus internus DBS.
• Hemifacial spasm:
– Botulinum toxin.
• Essential tremor:
– Propranolol, primidone, topiramate, botulinum toxin, ventral intermediate
nucleus DBS.
• Tics (Tourette’s syndrome)
– Fluphenazine, risperidone, botulinum toxin.
• Chorea (Huntington’s disease)
– Tetrabenazine.
• Myoclonus:
– Clonazepam, levetiracetam, piracetam, sodium valproate.
• Tardive dyskinesia:
– Withdrawal of the causative treatment, tetrabenazine (for tardive stereotypy,
chorea, tremor), botulinum toxin (for tardive dystonia).
Lancet Neurol 2009; 8: 844–56
TAKE HOME MESSAGES
• The key to diagnosing movement disorders is
establishing the phenomenology of the clinical
syndrome.
• The phenomenology is determined from the specific
combination of the dominant movement disorder, the
presence of any additional abnormal movements, and
any further neurological or non-neurological
abnormalities
• A range of conditions, both neurological and nonneurological, can mimic various movement disorders,
and it is vital not to miss these lookalikes
• A systematic approach is recommended when
clinicians see patients who present with one or more
types of movement disorder
NASSON
Thanks
Merci
Gracias