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MOVEMENT DISORDERS
Dr. Rashad Abdul ghani
Assistant Professor of Neurology
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Exrapyramidal system
This system includes
The non-
pyramidal motorareas in cerebral
cortexBasal ganglia
and their descending tracts
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The basal ganglia (BG) are a group of
nuclei situated in the deep part of the
cerebrum and upper part of the brain
stem
Thesenuclei are
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Functions
Premotor and somatosensory areas
control the axial and proximal limb
muscles and produce subconscious
associated automatic movements
The basal ganglia control the muscle tone
and are essential for performance of finevoluntary movements
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Basal ganglia circuit
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inhibitstimulate
Hyperkinetic disorderHypokinetic disorder
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Pathophysiology of basal ganglia disorders can be
classified into :
Hyperkinetic disorder
Chorea
Hemiballismus
Firing of VIN
Tremor
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Akinesia
RigidityParkinsonism
Dystonia is associated
with putamenal lesion
Hypokinetic disorder
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Movement disorders
A movement disorder impairs the regulation of
voluntary motor activity without directly affecting
strength, sensation or cerebellar function."
Movement disorders typically result from diseases
of the basal ganglia and can be classified intoAkinetic rigid syndromes (Hypokinesia) Parkinson
disease and other parkinsonism (Akinesia /
bradykinesiaand rigidity).Hyperkinesias (Hyperkinesia) (tremor, chorea,
athetosis, ballism, tics, dystonia and myoclonus).
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General concepts
Movement Disorder-Term for a physical sign
- Term to describe a specific syndrome/condition
Either excess of movement or paucity ofvoluntary and automatic movements, unrelatedto weakness or spasticity
Diagnosis of movement disorders requires:
- Identify the type and pattern of movement
- Isolated or accompanied with other neuro signs
- Determine probable etiology
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A systematic approach to diagnosis in patients presenting
with movement disorders
Abdo, W. F. et al. (2010) The clinical approach to movement disorders
Nat. Rev. Neurol. doi:10.1038/nrneurol.2009.196
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Characteristics to classify movements
Distribution Velocity
Amplitude
Stereotypy
Rythmicity
Suppressibility
Relationship to position, sleep, activity
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Parkinsonism -Akinesia / Bradykinesia
Impaired initiation of movement (Akinesia) Slowness of movement (Bradykinesia)
Reduced amplitude of voluntary movement
Slow initiating movement on command Loss automatic movements
Short shuffling steps
Loss spontaneous movement (gestures)
Hypomimina (decreased blink)
Hypophonia
Aprosody
Drool (decreased spontaneous swallow)
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Rigidity Increased muscle tone to passive motion
Present equally in all direction of the passive
movement throughout the range of motion
Distinguish from spasticity (velocity dependent)
Distinguish from paratonia (inability to relax)
Freezing Motor act halted transiently (several seconds)
Agonists and antagonist muscles are simultaneously andisometrically contracting
Start hesitation, turning hesitation, destination hesitation,freeze with obstacle
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Parkinson Disease (paralysis agitans)
Parkinson disease (PD) is a progressive
neurodegenerative disorder associated with a loss of
dopaminergic nigrostriatal neurons.
PD is recognized as one of the most common
neurological disorders, affecting approximately 1%
of individuals older than 60 years.
Cardinal features include aymmetrical sresting
tremor, rigidity, bradykinesia, and postural
instability.
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Pathophysiology
normal
Park dis
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Epidemiology
The incidence has been estimated to be 4.5-21cases per 100,000.
Prevalence range from 18-328 per 100,000population .
Most studies yielding a prevalence ofapproximately 120 per 100,000.
Male:female ratio 1.5: 1
Age:The incidence and prevalence of PD increasewith age. The average age of onset isapproximately 60 years
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Clinical features:
Onset of PD is typically asymmetric, with the mostcommon initial finding being an asymmetric resting
tremor in an upper extremity.
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Over time, patients notice symptoms related to
progressive bradykinesia, rigidity, and gait
difficulty. Symptoms of autonomic dysfunctionare common.
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Postural instability refers to imbalance and loss of
righting reflexes. Its emergence is an importantmilestone, because it is poorly amenable to
treatment and a common source of disability in late
disease.
Patients may experience freezing when starting to
walk (start-hesitation). Dementia generally occurs
late in PD and affects 15-30% of patients. Short-
term memory and visuospatial function may be
impaired
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Parkinson disease
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Causes and classification of parkinsonian
syndromes:
Primary parkinsonism: (77.7%)Parkinson disease:Sporadic and familial.
Secondary parkinsonism: (8.2%)
Drug-induced: dopamine antagonists and depletors
Toxins: Mn, CO, MPTP, cyanide
Trauma,Tumour,Vascular: multiinfarct state.
Infectious; postencephalitis
Metabolic; parathyroid dysfunction, hypoxia
Hydrocephalus; normal pressure hydrocephalus
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Parkinson plus syndrome: (8.2%)Cortical basal ganglionic degeneration (parkinsonism, apraxia,myoclonus)
Dementia syndromes:Alzeheimer disease, Diffuse lewy body disease ,Frontotemporal dementia
Multiple system atrophy syndromes:
Striatonigral degeneration (pure parkinsonism)
Shy-Drager syndrome (parkinsonism, dysautonomia)
Sporadic olivopontocerebellar degeneration(atypical tremor, ataxia, pseudobulbar palsy)
Amyotrophy-parkinsonism
Progressive supranuclear palsy (parkinsonism, supranuclear
palsy, pseudobulbar palsy, dementia)
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Heredodegenerative diseases:(0.6%)
Willson disease
Huntington disease
Neuroacanthocytosis
Hallervorden-spatz disease
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Lab Studies:No laboratory biomarkers exist for PD.
Serum ceruloplasmin concentration is obtained as
a screening test for Wilson diseasein in young
patients who present with parkinsonian
(MRI) and (CT) scan are unremarkable in PD.MRI is useful to exclude multi-infarct state,
hydrocephalus, and the lesions of Wilson disease.
PET) and (SPECT) may differentiate parkinsonsdisease from other parkinsonism.
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Treatment:
The goal of medical management of PD is to
provide control of signs and symptoms for as
long as possible while minimizing adverse
effects. Medications usually provide goodsymptomatic control for 4-6 years. After this,
many patients develop long-term motor
complications including fluctuations anddyskinesia.
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Neuroprotective therapy:
To date, no drug has been shown to influence theprogression of the disease. A clinical study
demonstrated that selegiline delays the need for
levodopa therapy in early PD by about 9 months
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Symptomatic therapy:
When should symptomatic treatment be started in
the treatment of PD?
A rational strategy is to start treatment when the
symptoms begin to impair activities of daily
living or to interfere with social and occupational
functioning.
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Levodopa, coupled with a peripheral
decarboxylase inhibitor (PDI), provides the
greatest antiparkinsonian. Dopamine agonists
provide symptomatic benefit but lack sufficient
efficacy to control signs and symptoms by
themselves in later disease.
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Early disease treatment strategies
Young patients have a longer life expectancy andare more likely to develop motor fluctuations and
dyskinesia, so other antiparkinsonian drugs should
be used first to delay the introduction of levodopa.This approach is known as dopa sparing strategy.
M di i
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Medication
L-dopaPDI-
Dopamine
agonists
COMT inhibitors
-MAO-B
inhibitors -
Amantadine
DA releaser
Anticholinergic
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Surgery
Stereotactic surgery has made a resurgence in the
treatment of PD. This is mainly because many
patients with advanced PD experience significant
disability or adverse effects despite optimal medical
management.
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Thalamotomy and chronic thalamic stimulation
are effective in reducing medically refractory
tremor.
Pallidotomy: This procedure is effective in
reducing contralateral dyskinesia.
Thalamic deep brain
stimulation (DBS) had
demonstrated benefit for
contralateral bradykinesiaand dyskinesia.
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Transplantation
Neural transplantation is a potential treatment forPD. Multiple sources of dopamine-producing
cells, including fetal nigral cells, sympathetic
ganglia, carotid body glomus cells have beenstudied. In animal PD models, fetal nigral
dopaminergic cells have been shown to form
synaptic connections that exhibit relatively
normal electrical firing patterns, and improve
motor function.
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Tremor
Non-purposeful, rhythmic, patterned to and fro oscillation
produced by regular and sequential contraction ofagonistic and antagonistic muscles.
Clinical classification:
Physiologic tremor
Rest tremor Action tremorduring voluntary contraction muscles
a-Postural tremorvoluntarily maintained against gravity
b-Kinetic tremorduring any voluntary movement
-Simple kinetic tremorduring non target directed voluntarymovement
-Intention tremorwith increasing amplitude at end ofmovement
c- Taskspecific tremorduring specific activity
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Eatiological classification of tremor
Metabolic: (B-12 deficiency,
Hyperthyroidism,
HyperparathyroidismHypocalcemia, Hyponatremia,
Kidney disease, Liver disease).
Toxic:Alcohol, Arsenic, Caffeine,
Lead, Nicotine, Withdrawal of
alcohol , cocaine.
Psychogenic tremor
Essential tremor
Parkinsonian tremor
Dystonic tremors
Cerebellar tremor
Drug-induced tremors
(antidepressants, especially
tricyclics, beta-agonists,
dopamine, lithium,metoclopramide, Na valproate,
neuroleptics, thyroid hormones).
Enhanced physiologic tremor, such as
medications, substances such as caffeine, fever,and anxiety.
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Essential tremor
Essential tremor (ET) is the most common
movement disorder. It is a syndrome
characterized by a slowly progressive postural
and/or kinetic tremor, usually affecting both
upper extremities.
The pathophysiology of ET is not known.
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Epidemiology:
The prevalence: 0.3-5.6% of the generalpopulation.
The prevalence of ET increases with age.
Age at onset has bimodal peaks- one in late
adolescence to early adulthood and a second in
older adulthood.
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Clinical features:
Tremor usually begins in one upper extremity andsoon affects the other. In about 30% of cases,
tremor involves the cranial musculature. The
tremor is characteristically postural and kinetic.Fifty to sixty percent have a family history of ET.
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Treatment:
Primidone and propranolol are the cornerstones
of maintenance medical therapy for ET.
Ch A h i B lli
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Chorea, Athetosis, Ballism
Chorea: rapid, jerky, non-rhythmic, non-patterned
aimless proximal and distal involuntarymovements (dancing-like).
Flow from one part body to another
Unpredictable in timing, direction, distribution
(random)
Athetosis: mixture of slow, twisting and writhinginvoluntary movements (snake-like)which
mainly distal. Often blends with chorea(choreoathetosis)
Ballism: Violent, flinging limb movements, which
are mainly proximal.
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Choreiform and ballistic movement
disorders
Causes and classification of chorea
Idiopathic
Hereditary - Huntington disease,
neuroacanthocytosis,
Dentatorubropallidoluysian atrophy(DRPLA), ataxia-telangiectasia,
familial calcification of basal
ganglia, Hallevorden-Spatz
disease, Mitochondrial cytopathies.
Hereditary (metabolic) - Wilson
disease, Lesch-Nyhan disease,
phenylketonuria, acute intermittent
porphyria
Other metabolic and endocrine disorders - Kernicterus, hyperthyroidism
hypoparathyroidism, hypoglycemia, nonketotic hyperglycemia, chorea
gravidarum, hypomagnesemia, chronic nonfamilial hepatic encephalopathy,
anoxic encephalopathy.
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Infectious - Sydenham chorea,
encephalitides, subacute sclerosing
panencephalitis, syphilis, HIV
infection, cerebral toxoplasmosis,Creutzfeldt-Jakob disease, subacute
bacterial endocarditis.
Drug induced - Neuroleptics,
levodopa, anticholinergics, oral
contraceptives, antihistamines,
amphetamines, cocaine, phenytoin,
tricyclics.
Toxins - Alcohol intoxication and
withdrawal, carbon monoxide,manganese, mercury.
Vascular - Cerebrovascular
disease (ischemic or
hemorrhagic), vasculitidis.
Immunologic - Systemic lupus
erythematosus, primary
antiphospholipid antibody
syndrome, multiple sclerosis,
postcardiac transplantation,
postvaccination
Tumors - Primary, metastaticc
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Sydenhams (rheumatic) chorea:
Sydenham chorea is a major manifestation ofacute rheumatic fever, seen in up to 10 per cent of
patients after streptococcal infection in endemic
areas. It arises some months after the acute illnessand is largely confined to children 5-15 years of
age. The condition is considered to be the result of
auto-antibodies reacting with the caudate nucleus.
Cli i l f t
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Clinical features
Rheumatic chorea is characterized by muscle
weakness and the presence of chorea. The patients
have the milkman grip sign, clumsy gait, and
dysarthric speech. Psychological symptoms are
equally prominent and typically precede theappearance of even the most subtle choreiform
movements.
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Lab studies: Antistreptococcal antibody titers
may no longer be elevated at presentation.
Neuroimaging: Most cases of Sydenham chorea
show no abnormalities.
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Huntingtons disease
Huntingtons disease is inherited as an autosomal
dominant. The relevant gene has been mapped tothe short arm of chromosome 4.
Neuropathology
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Neuropathology
The most striking neuropathology in HD occurs
within the neostriatum (medium spiny
neurones), in which gross atrophy of the caudate
nucleus and putamen is accompanied by
astrogliosis.
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The genetic basis of HD is the expansion of a
cysteine-adenosine-guanine (CAG) repeatencoding a polyglutamine. The increase in
polyglutamine seems to prevent the normal
turnover of the protein, resulting in aggregation ofthe protein with accumulation in the cytoplasm
and nucleus.
The prevalence of HD: 4.1-8.4 per 100,000
people.
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Clinical features:
In most, onset is in the third or fourth decade but
about 10 per cent of cases present before the ageof 20 years. Juvenile onset cases are more likely
to show paternal transmission, a fulminant
course, and a predominantly rigid picturecompared to late-onset cases.
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The clinical features of HD include a movement
disorder, a cognitive disorder, and a behavioral
disorder. Patients may present with one or alldisorders in varying degrees. Chorea is the most
common movement disorder seen in HD. As the
disease progresses, chorea coexists with andgradually is replaced by dystonia and parkinsonian
features, such as bradykinesia, rigidity, and postural
instability. Other late features are spasticity, clonus,
and extensor plantar responses.
T
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Cognitive decline is characteristic of HD.TThe
dementia syndrome associated with HD includes
early onset behavioral changes. Slowing ofcognition, impairment of intellectual function, and
memory disturbances are seen later. Other features
include ataxia, a general motor clumsiness, an
inability to sustain muscle contraction and
personality change. Saccadic eye movements are
slowed.
.
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Juvenile HD (Westphal variant), defined as
having an age of onset of younger than 20 years,
is characterized by parkinsonian features,dystonia, long-tract signs, dementia, epilepsy,
and mild or even absent chorea.
Investigations
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Investigations
Investigative findings, while often suggestive, do
not provide specific confirmation of thediagnosis.
Genetic testing
CT SCAN
MRI
SPECT
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Treatment
No specific treatment.Symptomatic treatment may improve the quality of
life and prevent complications. The choreic
movements can be controlled by the use ofneuroleptic agents.
Ti
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Tics
Tics: rapid lightening-like brief semi-purposeful,
repetitive and stereotyped movements.
Abnormal movement (motor tics) or abnormal
sounds (phonic tics) or both (tourette syndrome)
Precede by urge , can be suppressed for various
periods of time, inner tension, relieved by
increased burst of tics
P i ti di d S d ti di d
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Primary tic disorder Secondary tic disorders
Transient
Motor or vocal15% children (male>female)
Mild usually single movement
Chronic single tic disorder
Motor or vocal > 1 year
Adult onset (recurrent) tic
Tourettesyndrome
Motor and vocal > 1 year
Onset < 21 year old
Drugs
- CNS stimulants: amphetamines,methylphenidate, pemoline, cocaine
-Neuroleptics: tardive tics
Levodopa
Anticonvulsants: carbamazepine,
lamotrigine, phenytoin, phenobarbital
Hereditary:HD, Wilsons, others
Neurodevelopmental disordersPerinatal injury, chromosomal Disorders
Brain injuryStroke, encephalitis, trauma, CO poison
InfectionsSydenhams chorea, PANDAS
Postviral encephalitis, lyme, HIV
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Isolated tics are quite common in childhood,
usually remitting within a year or so of onset.
Multiple tics are classified as motor and vocal
tics. Where they are accompanied byvocalization, the diagnosis of Gilles de la
Tourettes syndrome is made .
Gilles de la Tourettes syndrome
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Clinical features
This condition usually begins in the first decade of
life, and is more common in girls. Associated
problems include echolalia, echopraxia and
various behavioural disturbances. Haloperidol has
proved the most effective drug for the treatment ofthis condition.
Dystonia
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Dystonia
Dystonia: involuntary, sustained muscle
contractions, causing twisting and repetitivemovements and abnormal postures.
Progress to prolonged abnormal postures
Repeatedly involve the same group of muscles
(unlike chorea)
Relatively long duration (compared to myoclonus
and chorea)
Agonists and antagonists contract simultaneously
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D t i
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Dystonia
Eatiological classification
Idiopathic or primary (Familial or sporadic)
Dystonis plus syndrome
Secondary as a consequence of focal brain damage
Neurodegenerative dystonia
Anatomic Distribution of Primary
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Anatomic Distribution of Primary
Torsion Dystonia
Focal Single Body Site
Segmental Contiguous body regions
Multifocal Multiple, noncontiguous body sites
Generalized Leg involvement with other body sites
Hemidystonia Unilateral
Causes of dystonias:
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Causes of dystonias:
Idiopathic or primary torsion dystonia
Vascular
Cerebrovascular,
AVMPerinatal cerebral injury
Secondary etiologies of dystonia
Infectious
Viral encephalitisSSPE
AIDS
Creutzfeldt-Jakob disease
Trauma
Head trauma
Peripheral trauma
Tumor
Brain tumor
ToxinsManganese, carbon
monoxide, carbon disulfide,
methanol
DrugsMetabolic
Kernicterus
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ugs
Levodopa, dopamine agonists,
antipsychotics, metoclopramide,
fenfluramine, flecainide, ergot
agents, anticonvulsant agents,
certain calcium channel blockers
Kernicterus
Wilson disease
Homocystinuria
Metachromatic leukodystrophyNeuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Primary antiphospholipid
antibody syndrome
Mitochondrial encephalopathies
Lesch-Nyhan syndrome
Structural
Atlanto-axial subluxationSyringomyelia
Arnold-Chiari malformation
Congenital Klippel-Feil syndrome
D t i l d
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NeurodegenerativeProgressive supranuclear palsy
Multiple systems atrophy
Corticobasal-ganglionic degeneration
Hallervorden-Spatz disease
Neuroacanthocytosis
Spinocerebellar ataxia (SCA), types 1, 2, 3Ataxia telangiectasia
Huntington disease
Dentatorubropalidoluysian atrophy
Dystonia plus syndromesMyoclonus dystonia
Rapid-onset dystonia parkinsonism
Xlinked dystonia parkinsonism (Lubag)
Wilson disease
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Wilson disease
Wilson disease, or hepatolenticular degeneration, is
a neurodegenerative disease of copper metabolism.Wilson disease is an autosomal recessive inherited
condition caused by mutations of a gene being
located on the long arm of chromosome 13.
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Pathophysiology: Wilson disease involves loss
of ability to export copper from the liver into bile
and to incorporate copper into hepatic
ceruloplasmin. Consequently, copper accumulates
in the liver, brain, kidney, and cornea.
Pathological changes include cirrhosis of the liverand atrophy of the putamen where cavitation may
appear.
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Microscopically there is neuronal cell loss
together with astrocytic proliferation.
i i
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Epidemiology
Incidence is 1 in 35,000-100,000 live births.
Age:The onset of liver disease is usually at age 8-
16 years.
Neurological symptoms are rare before age 12
years.
Clinical features
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Clinical features
About 40-50% of patients present with liver
disease and 35-50% with neurological orpsychiatric symptoms.
Kayser-Fleischer rings are almost always present
when the patient has neurological symptoms.
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Neurological Wilson disease may develop very
gradually, sometimes with acute deterioration.
There are three main types:
Dystonic type
Akinetic-rigid form
Cerebellar pseudosclerotic type
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A dystonic type presents with dysarthria,
dysphagia and drooling of saliva due to dystoniaof the face and bulbar musculature. Dystonia of
the limbs lead to rigidity, abnormal posture and a
dystonic gait.
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An akinetic-rigid form presents with prominent
resting or postural tremor and variable
bradykinesia and rigidity. The tremor of the armsmay be very severe (wing beating tremor).
A cerebellar pseudosclerotic type presents with
gait ataxia, dysarthria, limb ataxia and titubationof head.
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Psychiatric manifestation include hyperkinetic
behavior, irritability or emotional lability,
psychosis, abnormal behavior, personalitychanges and depression.
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Lab Studies:
No one test is completely reliable; diagnosis
depends upon a high index of suspicion and
supporting laboratory abnormalities.
Low serum copper level.
Low serum ceruloplasmin level.
Increased urinary copper level.
Liver biopsy Reveals evidence of liver cirrosis
with increased hepatic copper.
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Treatment
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Treatment
Treatment is based on the use of D-penicillamine,
trientine or zinc. The former two are chelatingagents; zinc acts by blocking uptake of copper from
the intestine.
Myoclonus
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y
Myoclonus: Sudden brief shock like involuntarypurposeless movement from muscle contraction(positive myoclonus) or inhibition (negative myoclonus)
Rhythmic or arrhythmic
Generalized, focal or multifocal
Stimulus sensitive or action sensitive
Symmetric or asymmetrical
Involuntary movementno preceding urge as seen in Tic.
Arise from any point in neuroaxis
Cortexcan be associated with seizures
Subcortical
Brainstem
Spinal cord
Peripheral nerve
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Differential diagnosis of MyoclonusPh i l i h i j k hi b i i f til
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Physiologichypnic jerk, hiccup, benign infantilemyoclonus
Epilepticepilepsia partialis continua, infantile spasms,juvenile myoclonic epilepsy
Progressive myoclonic epilepsyinborn errors metabolism,lysosomal storage diseases, mitochondrial disorders, etc.
Heterogeneous group of disorders characterized by epilepsy, myoclonus, progressive
neurological deterioration Symptomatic Post hypoxic
Post traumatic
Myoclonic dementiasCJD, AD, LBD
Toxic
Metabolic
Drug induced
Post infectious
Inflammatory