Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
CHOREA, DYSTONIA,
MYOCLONUS AND ATAXIA
Subagya, Neurologist
Neurology Departement Faculty of Medicine GMU
Sardjito General Hospital
MOVEMENT DISORDERS
Movement Disorder
Tics
Akinesia
Hyperkinesia
Tremor
Jerks
Chorea
Ataxia
Dystonia
Myoclonus
Ballism
DIFFERENTIAL DIAGNOSIS OF
TREMOR
Problems of Tremor
Tremor frequently misdiagnosed :
Definition
An involuntary, rhythmic,
oscillatory, sinusoidal
movement of a part or
parts of the body
Produced by contractions
of alternating or
synchronous antagonist
muscles
Classification of Tremor
Based
on..
Phenomenology: rest, action as in postural,
Classification
Based on Activation Condition
Rest tremor
Action tremor
Postural tremor
Kinetic tremor
Initial tremor
Dynamic tremor
Terminal tremor
(brainstem,MS)
PD (rest), rubral,
neuroleptic-induced
ET, PD (postural), drug
(VPA), voluntary (max. 6
Hz)
Physiological,
exaggerated physiologic,
drug-induced (e.g.,
epinephrine)
ET Anatomic Distribution
(n=350)
Treatment of Tremors in PD
Tremor Type
1 Classical parkinsonian
tremor or monosymptomatic rest tremor
Step 1
L-dopa
Dopaminagonists
Anticholinergics
Step 2
Step 3
Amantadine
Propranolol
Clozapine
Subthalamic
nucleus
stimulation
Dopamine
Dopaminagonists
Anticholinergics
Clozapine
Subthalamic
nucleus
stimulation
Amantadine
Propranolol
Anticholinergics
Cerebellar Tremor
Cerebellar lesion produce kinetic
tremor on the ipsilateral side of the
body.
Finger-to-nose testing results in
worsening tremor as the extremity
approaches the target.
Other signs include :
abnormalities of gait, speech,
and ocular movements;
inability to perform rapid
alternating hand movements;
postural tremor of the trunk and
head (titubation).
Holmes Tremor
Rubral tremor, midbrain tremor,
Benedikt's syndrome are tremors
that are all due to a lesion in the
midbrain.
Criteria diagnosis:
The presence of both resting and
intention tremor.
The tremor rhythm is often not as
regular as other tremors.
Slow frequency, mostly < 4.5 Hz.
Pathophysiology: combined lesion of
the cerebello-thalamic and
nigrostriatal systems.
Orthostatic Tremor
Unique tremor syndrome in patients
over 40 yo.
Subjective feeling of unsteadiness
during stance but only in severe
cases during gait.
None of the patients has problems
when sitting and lying.
The diagnosis can be confirmed by
EMG (quadriceps femoris muscle)
with a typical 13-18 Hz.
Treatment: clonazepam and
primidone.
Classic ET
Inclusion Criteria
Deuschl G, Bain P, Brin M, and an Ad Hoc Scientific Committee. Consensus statement of the Movement
Disorder Society on tremor. Mov Disord1998;13 (suppl 3):2-23.
Classic ET
Exclusion Criteria
Red Flags
1. Unilateral tremor, focal tremor, leg tremor, gait
disturbance, rigidity, bradykinesia, rest tremor
2. Sudden or rapid onset.
3. Current drug treatment that may cause or
exacerbate tremor.
4. Isolated head tremor with abnormal posture (head
tilt or turning)
Definite ET:
(NIH Collaborative Genetic Criteria)
2+ amplitude rating for bilateral arm tremor,
Or
2+ amplitude rating in one arm and 1+ amplitude
rating in other arm,
Or
1+ amplitude rating in at least one arm and
predominant cranial/cervical tremor with 2+
amplitude rating
Possible ET
Functional Disability
Handwriting
Ability to drink liquids from a cup or glass
Precise, fine manipulations of the hands
Capability to feed himself
Ability to dress
Speech (i.e., dysarthria as in voice tremor)
Social interactions leading to embarrassment
Differential Diagnosis
Parkinsons disease (PD)
Pallidonigral degeneration
Multiple system atrophy (MSA)
Olivopontocerebellar atrophy (OPCA)
Striatonigral degeneration
Diagnosis of ET
Clinical history/family history
Physical examination (QOL/disability, etc.)
Absence of abnormal laboratory findings (normal
TFT, serum ceruloplasm, etc.)
Current medications
Effect of alcohol
Archimedes spiral; handwriting test; CT scan
Secondary Criteria
Red Flags
Family history
Treatment ET
Propranolol and primidone
are the drugs of first choice.
Contraindication of
propanolol are cardiac
insufficiency or arrhythmia
and diabetes.
Surgery (DBS) is indicated
for patients with severe
disability and resistant to
medical treatment.
MANAGEMENT OF CHOREA
Definition
The English word chorea itself comes from the Greek
word choeria, which means dance.
Chorea is defined as a syndrome characterized by the
continuous flow of random muscle contractions.
Description
A patient with chorea may appear :
Neuroacanthocytosis
Classification
1. Nongenetic Causes of Chorea
Vascular chorea
Autoimmune chorea
Drug-induced chorea
Metabolic chorea
Infectious chorea
2. Genetic Causes of Chorea
Huntington' Disease
Wilson's Disease
Neuroacanthocytosis
Causes (1)
The basic causes of choreic movements is overactivity of
a neurotransmitter called dopamine in a set of
structures deep within the brain known as the basal
ganglia
The basal ganglia belong to a larger part of the nervous
system that controls the normal movement of muscles.
Causes (2)
Imbalances of dopamine may be caused by:
Huntington chorea,
Sydenhams chorea,
Chorea gravidarum,
Senile chorea,
Blockage or ruptures of one of the arteries,
Metabolic disorders (hyperthyroidism,
hypocalcemia),
Infectious disease (viral encephalitis, late
stage neurosyphilis)
Medications (antipsychotic drug, antiepileptic,
Huntington's Disease
Huntingtons Chorea was described
by G Huntington in 1872.
Disorder characterized by choreatic
movement is HD.
The characterized of HD is motoric
disturbance with psychiatric and
cognitive symptoms
HD is a autosomal dominant inherited
disorder.
Prevalence : 60-90/1000.000.
Mean age of onset : 40 yo with range
of 2-75 yo.
Autoimmune Chorea
Sydenham's Chorea
SC remains the most common cause worldwide of acute
chorea in children
The usual age at onset of SC is 8 - 9 years.
SC is the prototype of chorea resulting from immune
mechanisms.
Chorea occurs in 26% of patients with rhematic fever.
The pathogenesis of SC is thought to be related to the
existence of molecular mimicry between streptococcal
and central nervous system antigens.
Vascular Chorea
Chorea is complication of acute
vascular lesion,
Incidence : 1% of patients with
acute stroke.
This hyperkinesia, often
characterized as hemichorea,
Usually related to ischemic or
hemorrhagic lesion of the basal
ganglia and adjacent white
matter in the territory of the
middle or the posterior cerebral
artery.
Vascular chorea often comes into
remission spontaneously.
Metabolic Chorea
Chronic acquired or non-Wilsonian hepatolenticular
degeneration was the first well-characterized metabolic
cause of chorea.
The clinical picture is combination of neurological and
hepatic manifestations.
The neurological findings include apathy, somnolence,
parkinsonism, tremor, myoclonus, asterixis, and chorea.
Other possible metabolic causes of chorea are
hypoglycemia, hyperthyroidism, renal failure, and
ketogenic diet.
Drug-Induced Chorea
Levodopa is the most common form.
Drugs related to induction of chorea:
Diagnosis
Age: HC is typically an adult over 35 yo, SC
most often occurs in children aged 6 -14,
Sex : HC affects both sexes equally, SC affects
girls twice,
History of Medication,
History of recent throat infection or rheumatic
fever,
Blood test to detect metabolic disorders ,
Genetic test (family history of HC),
LCS to detect the presence of encephalistis or
neurosyphilis,
Treatment
Chorea is treated if the movements are so severe to
cause embarrassment or risk injury to the patient,
Drugs that are given to treat chorea suppress the
activity of dopamine in the basal ganglia.
Management of HC include pharmacotherapy and non
pharmacotherapy.
Neuroleptics are the best accepted to controll
symptoms of HC such as clozapine, quetiapine and
olanzapine.
Symptoms
Pharmacological
Non Pharmacological
None
Earlier stage
Chorea:
slight and no functional
significance
Advanced stage
Chorea
Hypokinesia, rigidity
Anxiety
Obsessive behavior
Depression
Dysphagia, dysarthria
Gait difficulties and falls
Weight loss
Psychiatric care+++
Dietary follow-up
Social support
Neuroleptics
Sometimes L-dopa
Benzodiazepines
Neuroleptics
Antidepressant (SSRI+++)
Physical therapy+++
Physical therapy+++
Psychiatric care
Support of family and spouse
Protein-complementary diet
Speech therapy+++
Physical therapy+++
NMDA receptor antagonist
Dietary advice
Dietary supplementation+++
Prognosis
The prognosis of chorea depends on its cause.
HC is incurable, leading to the patient's death 1025
years after the first symptoms appear.
SC recover completely within 1 - 6 months.
CG usually resolves by itself when the baby is born.
Chorea e.c. vascular disorder may last for 6 8 weeks
after the blockage or rupture is treated.
Chorea e.c. metabolic disorders usually go away when
the chemical or hormonal imbalance is corrected.
MANAGEMENT OF DYSTONIA
DEFINITION
Dystonia is a neurological movement disorder in
which sustained muscle contractions cause
twisting and repetitive movements or abnormal
postures.
DESCRIPTION
Oppenheim in 1911 : childhood-onset syndrome,
he termed dystonia musculorum deformans.
Manifestation of clinical symptoms of dystonia is a
wide range of variability.
Body parts may be affected in focal dystonia, the
eyelids, mouth, muscles controlling the voice,
neck, hand, or arm.
EPIDEMYOLOGY
Dystonia is the most frequent movement disorder,
after PD and ET.
Prevalence :
3.4 per 100,000 for generalized forms,
29.5 per 100,000 for focal dystonia.
CLASSIFICATION
1. By cause (etiology)
Primary (or idiopathic).
Dystonia is the only clinical sign,
No identifiable exogenous cause or degenerative disease.
E.g. : DYT-1 dystonia
Dystonia-plus
Dystonia is a prominent sign,
Associated with another movement disorder.
No evidence of neurodegeneration.
E.g.: Myoclonus-dystonia (DYT-11).
Heredodegenerative:
Dystonia is a prominent sign of a heredodegenerative disorder
among other neurological features,. E.g. : Wilsons disease
(contd)
Secondary:
dystonia is a symptom of an identified neurological condition,
such as a focal brain lesion, exposure to drugs or chemicals.
dystonia e.c. brain tumor, off-period dystonia in PD.
Paroxysmal:
dystonia occurs in brief episodes with normal in between.
Three main forms :
Kinesigenic dyskinesia (PKD; DYT-9) attacks are induced by
sudden movement,
Exercise-induced dystonia (PED) by exercise such as walking
or swimming,
Non-kinesigenic (PNKD; DYT-8) by alcohol, coffee, tea.
2. By age at onset
Early onset (2030 years):
3. By distribution
Focal: single body region
CAUSES
The exact cause of dystonia is unknown.
Ongoing research on dystonia is directed at examining the
abnormal brain activity in different parts of the brain such as
the basal ganglia and cerebral cortex.
The basal ganglia are a collection of nerve cells that are part of
the brain pathways important for regulating aspects of normal
movement.
There is evidence for abnormalities in the spinal cord and
peripheral nerves as well, suggesting that dystonia may
involve abnormalities at multiple levels of the nervous system.
SYMPTOMS
The symptoms of dystonia depend on the body part affected.
Face : repetitive blinking, tongue protrusion, or jaw clenching.
Neck : sustained flexion, extension, or twisting postures of the
neck known as torticollis.
Task-specific dystonia only arise during the performance of
certain tasks such as writing, typing, or playing instruments.
Generalized dystonia is the most severe form.
Dystonia can be worsened by stress and anxiety, whereas it
may be relieved with relaxation and sleep.
DIAGNOSIS
Ax & Px :
TREATMENT
Treatment for dystonia is management of the symptoms and
depends on the type of dystonia.
Dystonia e.c. drugs, Wilson's disease, dopa-responsive dystonia
may be improved by treating the underlying disease.
The various treatments available :
surgical modalities.
oral medications,
botulinum toxin injections,
Surgical treatment
Medications
PROGNOSIS
Depends on the distribution and the cause.
The initial site of symptoms may predict the prognosis.
MANAGEMENT OF MYOCLONUS
DEFINITION
In 1881, Friedreich introduced the term
paramyoclonus multiplex to describe sudden jerks,
previously classified as epilepsy.
Myoclonus refer to brief, sudden jerks caused by
muscle contractions or muscle inhibitions.
Myoclonus is a brief, rapid, shock-like jerking
movement.
DESCRIPTION
Not a diagnosis of a disease.
Usually caused by sudden muscle contractions.
Contractions called positive myoclonus, relaxations called
negative myoclonus.
Myoclonus may occur :
in epilepsy or
following many different types of brain injury,
such as lack of oxygen, stroke, trauma, or
poisoning.
Myoclonus can occur in one or more limbs and generalized.
EPIDEMIOLOGY
The number of studies in myoclonus is limited.
There is only one study in Olmsted County
showing a lifetime prevalence of 8,6 cases per
100.000 in the population.
Symptomatic myoclonus (72%) is the most
common, followed by epileptic myoclonus (17%)
and essential myoclonus (11%).
CLASSIFICATION
Clinical picture:
Clinical presentation (spontaneous, reflex
myoclonus, action-iduced, negative myoclonus)
Temporal pattern (irregular, rhythmic,
synchronous in different parts of the body)
Distribution (generalized, multifocal, segmental,
focal)
PATHOPHYSIOLOGY
The mechanisms are not yet fully understood.
Some types of stimulus-sensitive myoclonus may involve
overexcitability of the parts of the brain that control
movement.
These parts are interconnected in a series of feedback loops
called motor pathways.
These pathways facilitate and modulate communication
between the brain and muscles via chemicals known as
neurotransmitters.
DIFFERENTIAL DIAGNOSIS
Others dyskinesias such as: tics, chorea, postural tremor,
dystonia and psychogenic jerks.
EMG can descriminate between tremor and myoclonus.
Tics can resemble myoclonic jerks, but they can discriminate:
DIAGNOSIS
The diagnosis is not difficult, depends on careful
patient description of the symptoms.
In most cases, diagnosis can be established clinnicaly.
Additional testing :
Blood tests,
Neuroimaging studies,
Genetic tests,
Electrophysiological tests (EMG)
TREATMENT
Treatment of the underlying disorder is best approach, if
possible.
In fact, treatment is based on the anatomical origin:
Cortical :
the first choice is sodium valproate and clonazepam.
Subcortical :
clonazepam, trihexyphenidyl or DBS.
Spinal :
Best treatment is clonazepam for propiospinal
myoclonus,
Carbamazepine/tetrabenazine for segmental myoclonus.
PROGNOSIS
Myoclonus is not a life-threatening disorder,
Myoclonus may continue to have a significant
impact on quality of life and activities of daily
living.
MANAGEMENT OF ATAXIA
DEFINITION
Ataxia, from the Greek language meaning
"without order or "lack of order, refers to
disturbances in the control of body posture,
motor coordination, speech control, and eye
movements.
EPIDEMIOLOGY
Approximately 150,000 people in the US alone are
presently affected by ataxia.
Friedreich ataxia is the most common inherited
ataxia, occurring in 1 out of 50,000 population.
TYPE OF ATAXIA
1. Cerebellar ataxia
due to dysfunction of the cerebellum.
accompanied other symptoms : antagonist
hypotonia, asynergy, dysmetria, dyschronometria,
and dysdiadochokinesia.
manifestation of symptoms depend on cerebellar
structures lesion, bilateral or unilateral.
2. Sensory ataxia
due to loss of proprioception.
Sensory ataxia presents with :
an unsteady "stomping" gait with heavy heel strikes,
postural instability that is characteristically worsened
when the lack of proprioceptive input cannot be
compensated by visual input.
3. Vestibular ataxia
due to dysfunction of the vestibular system, which
in acute and unilateral cases is associated with
prominent vertigo, nausea and vomiting.
In slow-onset (chronic bilateral cases of vestibular
dysfunction), dysequilibrium may be the sole.
CAUSES
Brain trauma
Stroke
Aneurysm
Brain tumors
Parkinson's disease
Multiple sclerosis
Congenital malformation
Hereditary ataxias:
autosomal dominant ataxias or
autosomal recessive ataxias.
DIAGNOSIS
Type of ataxia must be differentiated:
Genetic forms of ataxia,
Acquired (non-genetic) ataxias,
Diagnosis of ataxia :
Family history,
Physical examination,
Neuroimaging (CT or MRI).
Genetic test is the most reliable tool for diagnosis.
TREATMENT
No cure or preventive treatment for:
the progressive forms of the disease,
the accidental lesions of motor brain areas or the
spinal cord.
To control the symptoms :
antispasmodic or anticonvulsive medications,
analgesics for some painful neuropathies.
Cane or walker is often used to prevent falls,
Severe cases may require a wheelchair.
REHABILITATION
Acute ataxia is a condition that is likely to improve.
Aims of therapy is to maintain the highest practical
level of muscle function and coordination.
Physical therapists :
strengthening exercises.
range of motion exercises.
PROGNOSIS
The prognosis depends on the type and nature of the
disease.
Ataxia as a result of trauma or infection may be a
temporary condition or leave some degree of
permanent disability.
Hereditary ataxias can become more disabling over
varying periods of time.
THE END
THAK YOU