childhood and juvenile movement disorders
TRANSCRIPT
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Amr Hassan, M.D,FEBN Associate professor of Neurology
Cairo University
Childhood and Juvenile
Movement Disorders
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Any approach begins with . . .
A good physical exam
A systematic differential diagnosis
Keen sense of observation
A good history
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Childhood and Juvenile movement disorders
Mixed
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Clinical assessment of AIM
Describe the movement
Differentiate from other MD
Distribution
Decreased by , Increased by
Duration
Diurnal variation
Distinguished phenomenon
Dr Amr Hassan 2017
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Clinical assessment of AIM
Describe the movement
Differentiate from other MD
Distribution
Decreased by , Increased by
Duration
Diurnal variation
Distinguished phenomenon
Dr Amr Hassan 2017
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Describe the movement
• Rhythmic vs. arrhythmic
• Sustained vs. nonsustained
• Paroxysmal vs. Nonparoxysmal
• Slow vs. fast
• At rest vs. Action Vs Task Specific
• Amplitude
• Patterned vs. non-patterned
• Combination of varieties of movements
• Supressibility
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Describe the movement
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Clinical assessment of AIM
Describe the movement
Differentiate from other MD
Distribution
Decreased by , Increased by
Duration
Diurnal variation
Distinguished phenomenon
Dr Amr Hassan 2017
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Clinical assessment of AIM
Describe the movement
Differentiate from other MD
Distribution
Decreased by , Increased by
Duration
Diurnal variation
Distinguished phenomenon
Dr Amr Hassan 2017
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Paroxysmal vs. Nonparoxysmal
• Tics
• PKD
• PNKD
• Akathic movements
• Sterotypies
• Moving toes
• Myorhythmia
Paroxysmal Continous
• Abdominal dyskinesias
• Athetosis
• Tremors
• Dystonic postures
• Myoclonus (rhythmic) • Tardive sterotypy
• Myokymia
• Tic status
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Differentiating from other MD
Abn movement SLOW FAST
Stereotyped (involuntary)
Non-stereotyped
Rhythmic Not
Rhythmic
Dystonias Athetosis
Tremor Tics
Myoclonus
Chorea
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Fernandez alvarez, 2005
684 patient< 18 years
• Tics - 43%
• Dystonia- 23%
• Tremor- 16%
• Myoclonus 6%
• Mixea- 4%
• Chorea- 3%
• Hypokinetic 3%
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Genetics of PD
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Genetics of PD
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Farrer Nature Reviews Genetics 7, 306–318 (April 2006) | doi:10.1038/nrg1831
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Genetics of PD
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Symbol Gene locus Disorder Inheritance Gene
PARK1 4q21-22 EOPD AD SNCA
PARK2 6q25.2–q27 EOPD AR Parkin
PARK3 2p13 Classical PD AD Unknown
PARK4 4q21–q23 EOPD AD SNCA
PARK5 4p13 Classical PD AD UCHL1
PARK6 1p35–p36 EOPD AR PINK1
PARK7 1p36 EOPD AR DJ-1
PARK8 12q12 Classical PD AD LRRK2
Juvenile Parkinsonism
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PARK9 1p36 Kufor-Rakeb syndrome
AR ATP13A2
PARK10 1p32 Classical PD Risk factor Unknown
PARK11 2q36-27 Late-onset PD AD Unknown
PARK12 Xq21–q25 Classical PD Risk factor Unknown
PARK13 2p12 Classical PD AD or risk factor
HTRA2
PARK14 22q13.1 EOP + Dystonia AR PLA2G6
Symbol Gene locus Disorder Inheritance Gene
Juvenile Parkinsonism
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PARK15 22q12–q13 EOP + AR FBX07
PARK16 1q32 Classical PD Risk factor Unknown
PARK17 16q11.2 Classical PD AD VPS35
PARK18 3q27.1 Classical PD AD EIF4G1
Symbol Gene locus Disorder Inheritance Gene
Juvenile Parkinsonism
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Juvenile Parkinsonism
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OA < 40 years
Onset age (OA)
OA ≥ 40 years
OA ≥ 21 years OA < 21 years Typical PD
Atypical symptoms: - Cognitive
impairment - Pyramidal signs
- ATP13A2 - FBKO7 - PLA2G6
- Slow disease progression
- Good levodopa response
- Early motor fluctuations
- PARK2 - PINK1 - DJ-1
SNCA
- Cognitive Impairment - Rapid disease
progression
LRRK2
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Family history
Positive
Autosomal dominant inheritance
Autosomal recessive inheritance
Mitochondrial disorders
X-linked inheritance
- HD - SCA 2,3 - DRD
Sole or prevalent symptom is parkinsonim
Parkinsonism associated with other neurological symptom
Parkin mutations PARK7 mutations PINK1 mutations Rapid-onset dystonia-parkinsonism
- Wilson's disease - Neuroacanthocytosis - Pantothenate kinase-associated
nourodegeneration - HARP syndrome2 - Neuronal intranuclear inclusion
disease - Neuronal ceroid lipofuscinosis - Niemann-Pick type C disease - Gaucher's disease - Fahr's syndrome - Cerebrotendinous xanthomatosis - Neuroferritinopathy - Lesch-Nyhan syndrome
Lubag's syndrome
Structural Tumours Hydrocephalus Stroke Extrapontine Myelinotysis
Autoimmune Lupus
Infections Viral encephalitis Subacute sclerosing Panencephalitis HIV/AIDS
Drugs Many (See section 2.4)
Toxins Carbon monoxide Methanol Carbon disulfide Toluene n-Hexane Cyanide MPTP MDMA Manganese
Negative
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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What is a tic?
.
A “tic” is a sudden, rapid, recurrent, non-rhythmic, stereotyped motor movement or vocalization
May appear as exaggerated fragments of ordinary motor or phonic behaviors that occur out of context
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Classification of tics
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Motor Tics (Simple)
• Generally lasting less than several hundred milliseconds
• Examples include:
• eye blinking
• nose wrinkling by
• shoulder shrugging
• neck jerking
• facial grimacing
• abdominal tensing
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Motor Tics (Complex)
• Longer in duration than simple tics; usually lasting seconds or longer
• Examples include: • hand gestures
• jumping, touching, pressing, or stomping
• facial contortions
• repeatedly smelling an object
• squatting and/or deep knee bends
• retracing steps and/or twirling when walking
• assuming and holding unusual positions (including “dystonic” tics, such as holding the neck in a particular tensed position)
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• Predominate in the face, upper arms and neck.
• Motor: eye blinking, shoulder shrug.. • Vocal: squeaking, cough, sniffing… • Sensory: sensation ‘clothes not right’..
• Can be supressed; relief when expressed
again
Tics
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• Aggravated by stress / anxiety.
• Family history tics / OCD.
• Recurrent movements stereotyped.
• Tics are preceded by rising discomfort or urge (sensory tic) that is relieved by the movement (itch and scratch).
• Can persist in sleep.
Tics
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• Chorea
• Myoclonus
• Stereotypies
• Compulsions
• Pseudotics
• Secondary – ass Strep infection “PANDAS”
Tics: D.D.
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• 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.
Tics: D.D.
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> 1 year
Not tic free > 3 months
> 1 year
Not tic free > 3 months
< 1 year
=/> 4 weeks
Multiple motor AND
single/multiple vocal
Single/multiple
motor OR vocal
Single/multiple
motor AND/OR
vocal
Tourette’s Chronic Transient
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• Obsessions and compulsions - OCD
• ADHD
50 – 60% of TS
precedes tics by 2-3 years
• Sleep disorders
• Learning problems - 5X more special ed
• Behavioural problems
• Mood disorders
Tourettes Syndrome:Associated disorders
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Tics
OCD
ADHD
TS
Tourettes Syndrome
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Tremors: classification
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Tremors: classification
REST TREMORS ACTION TREMORS
• Parkinsonian • ET variants • Midbrain lesions • Myorhythmia
POSTURAL KINETIC MISCELLANEOUS
•Physiologic • Enhanced physiologic (stress, drugs, endocrine) • ET • Orthostatic • PD (reemergent) • Dystonic • Cerebellar • Neuropathic
• Cerebellar lesions as in MS, stroke, wilson disease • Midbrain • Task specific
• Idiopathic • Psychogenic • Other involuntary movements like Myoclonus, Fasciculations, Asterixis, Clonus
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Choreo athetosis
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• Infectious: – Rheumatic fever /
Sydenham chorea
– Herpes encephalitis
– HIV
– Cysticercosis
– Toxoplasmosis
– Diphtheria
– Scarlet fever
• Systemic diseases: – SLE
Chorea
• Vascular: – Cyanotic heart disease
• Intoxication: – CO
– Methyl alcohol
• Primary genetic: – Benign hereditary
– Huntington`s disease
– Ataxia telangiectasia
• Metabolic: – Wilson`s disease – Galactosaemia
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• Metabolic or toxic encephalopathies- – Hypo/ hypernatremia
– Hypocalcemia
– Hyperthyroidism
– Hypoparathyroidism
– Hepatic/ Renal failure
– Carbon monoxide, Manganese, mercury, OP poisoning
Chorea
• Drug induced chorea- – Dopamine receptor
blocking agents- • Phenothiazines
– Antiparkinsonian drugs- • L-dopa
• Dopamine agonists
• Anticholinergics
– Antiepileptic drugs- • Phenytoin
• Carbamazepine
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• Described in 1686
• Major feature of Rheumatic Fever
• In older than 10 year group: > in girls
• Progressive – starts with behaviour problems, clumsiness, difficulty writing, restlessness then after weeks chorea becomes evident
• Present weeks to months; usually good outcome
Sydenham Chorea
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• From childhood to the 80s.
• The important point is that HD should be considered in all cases of chorea.
• AD (But anticipation)
A child may present before the parent is symptomatic.
A parent could have died before becoming symptomatic, or may have been misdiagnosed.
Huntington’s disease
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Huntington’s disease
CAG
10-26 Normal
27-35 Intermediate
36-39 Reduced penetrance
40+ Full penetrance
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Neurological
Psychiatric
Cognition
Non-neurological
Chorea Depression Speech difficulty Muscle and testicular atrophy
Dystonia Mania Executive dysfunction
Weight loss
Rigidity Psychosis Short term memory loss
Osteoporosis
Gait abnormality Anxiety Poor attention Impaired glucose tolerance test
Eye movement abnormality
Suicidal tendency
Poor calculation Heart failure
Huntington’s disease
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Huntington’s disease
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Huntington’s disease
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Classification of dystonia
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Classification of dystonia
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– Focal: Blepharospasm. Cervical dystonia. Hemifacial spasm. – Segmental. – Multifocal. – Generalized. – Hemidystonia.
– Early < 26. – Late>26 years.
Syndromic pattern
Isolated dystonia (1ry dystonia)
Combined dystonia (Dystonia-plus, Degenerative, 2ry)
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Clinical assessment of dystonia
• Describe the movement • Differentiate from other MD • Dystonia or dystonia plus • Distribution • Decreased by , Increased by • Diurnal variation • Duration • Distinguished phenomenon
Sensory tricks Overflow mirroring
Dr Amr Hassan 2017
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Hyperkinetic Dystonia
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Clinical assessment of dystonia
• Describe the movement • Differentiate from other MD • Dystonia or dystonia plus • Distribution • Decreased by , Increased by • Diurnal variation • Duration • Distinguished phenomenon
Sensory tricks Overflow mirroring
Dr Amr Hassan 2017
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Distribution of dystonia
Alberto Albanese, 2017
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Cervical dystonia
Laterocaput Laterocollis Torticaput
Anterocaput Anterocollis Retrocaput Retrocollis Sagittal shift forward
Torticollis Lateral shift
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Writer cramp
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Segmental dystonia
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Trunkal dystonia
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Athetoid CP
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• 2 groups : Choreo-
athetotic and dystonic
• Often severe hypoxia in
term baby; previously
kernicterus
• History of insult + UMN
signs
• Incidence of MR 30%
Dyskinetic CP
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Generalized dystonia
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Hallervorden–Spatz syndrome
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• AD
• Mutation of the enzyme GTP
cyclohydrolase, which is the rate-
limiting step in the production of
tetrahydrobiopterin, a cofactor in
the metabolism of dopamine.
• Limb dystonia that typically affects
walking.
Dopa-responsive dystonia
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• Diurnal fluctuation.
• Spastic gait, parkinsonism, or
cerebral palsy.
• Focal dystonia or parkinsonism in
adults.
• Patients respond to low dosages:
300 mg per day.
Dopa-responsive dystonia
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Paroxysmal Dystonia
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Overflow
• Commonly found in dystonia.
• Unintentional muscle contraction which accompanies, but is anatomically distinct from the primary dystonic movement.
• It commonly occurs at the peak of dystonic movements.
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Mirror dystonia
• Mirror dystonia is a unilateral posture or
movement that is the same or similar in
character to a dystonic feature that can be
elicited, usually in the more severely affected
side, when contralateral movements or
actions are performed.
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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– Perinatal insults • Birth asphyxia
• Metabolic
• Intra ventricular haemorrhage
• Meningitis
– Congenital malformations • Primary cerebellar hypoplasia
• Hydrocephalus
– Foetal alcohol syndrome
– Joubert syndrome
– Postnatal acquired • Hypoxia
• Hypoglycaemia
• Chronic phenytoin
• Thiamine deficiency
• Trauma
• Infections – Cerebellar abscess – Viral cerebellitis – Bacterial
• Metabolic: – Organic acidurias – Leigh’s encephalopaties – Hypoglycaemia – Hyperammonaemia
• Toxins – Alcohol – Phenytoin – Phenobarbitone, – Lead – Glue – Vit A
• Posterior fossa tumour • Vascular
– Haemorrhage – Embolism – AVM
• Pseudo-ataxia
Acute Chronic non progressive
Ataxia: causes
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• Chronic or Progressive Ataxia- – Brain tumors
– Congenital malformations-
• Cerebellar aplasias
• Dandy- Walker malformation
• Chiari malformation
– Hereditary ataxias
Ataxia: causes
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Ataxia telangiectasia
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• Slowly progressive cerebellar ataxia
• Telangiectasis of skin and congunctivae
• Frequent pulmonary infections
• Chorea-athetosis
• Malignancies – lymphoreticular
• Sensitivity to ionizing radiation
• Ocularmotor apraxia
• Elevated alpha feto protein
Ataxia telangiectasia
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Myoclonus like disorders
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Epileptic • Benign rolandic epilepsya • Juvenile myclonic epilepsya • Angelman syndrome Secondary • Posthypoxic myoclonus (Lance-Adams syndrome) • latrogenic (valproate, lamotrigine, meperidine, amantadine, levodopa) • Metabolic (hypematremia, hypercalcemia, hyperthyroidism,
hypomagnesemia, nonketotic hyperglycemia, biotin deficiency, metabolic alkalosis)
With dystonia • Myodonus-dystonia (DYT11, DYT15) With ataxia • Heroin toxicity (acute) • Ataxia-telangiectasia • Myoclonic epilepsy with ragged red fibersa (MERRF) • Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes
(MELAS) • Opsoclonus-mrclonus ataxia
Non progressive myoclonus
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With ataxia • Autosomal dominant spinocerebellar ataxias with myoctonus (SCA2, SCA3,
SCA14, SCA19) • Dentatorubral-pallidoluysian atrophy • Friedreich ataxia • Ataxia-telangiectasia • Orthostatic myoclonus Severe/rapidly progressive • Creutzfeldt-Jakob disease • Progressive myodonic encephalopathies • Subacute sclerosing panencephalitis • Infectious encephalitis (herpes simplex virus, arbovirirs, human T-cell
tymphotropic virus 1, HIV) • Postinfectious encephalitis • Hashimoto encephalopathy • Celiac disease • N-methyl-o-aspartate (NMDA) receptor antibody encephalitis • latrogienic (bismuth encephalopathy)
Progressive myoclonus
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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Myoclonus
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Benign Neonatal Sleep Myoclonus
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• Rapid, random, bilateral/asynchronous
• jerking, may be forceful and rhythmic
• Seconds-minutes or even hours in sleep
• All stages of sleep (Quiet sleep/NREM)
• Differential: Seizures and Jitteriness
• Disappear when infant is woken up
• Not seen during alert wakefulness
• Does not stop on passive flexion (jitter stops)
• EEG: Normal baseline and during events
• Mostly disappear by late infancy
Benign Neonatal Sleep Myoclonus
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Juvenile movement disorders
Mixed
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Tics Tourette syndrome
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Myoclonus Tics
Onset Any School age
Pattern Patterned, predictable, identical Variable, wax and wane
Movements Jerky, shock like, sudden Blink, grimace, shrug
Rhythm Maybe Rhythmic Rapid, sudden , random
Duration Brief, intermittent Brief, intermittent
Premonitory urge
No Yes
Trigger No, action, stimulus sensitive Excitement, stress
Suppression No Brief (causes inner tension).
Family History May be positive Frequently positive
Treatment AED Neuroleptics
Tics Vs Myoclonus
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Mixed movement disorders
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Wilson Disease
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• AR, chromosome 13.
• Mutations to the gene coding for ATPase copper transporting beta polypeptide (ATP7B), which is located on.
• ATP7B is a relatively large gene at around 80 kb, and it contains 21 exons.
Wilson disease
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TEST COMMENTS
Urinary Copper 24 hour copper excretion >100µg in 65% of WD patients
Urinary copper penicillamine challenge with two dosages of 500mg 12 hours apart and measure urine copper
24 hour copper excretion > 1600 µg in patients with active liver disease
Serum Copper Serum copper may be low in asymptomatic cases (because caeruloplasmin is low) or high in cases with active liver disease (because free copper is raised)
Serum "free" copper Calculated on the basis that caeruloplasmin contains 0.3% copper
Free Copper >25µg/dl
Serum Caeruloplasmin < 20 mg/dl (in 95% of WD patients)
KF rings Identification in most patients requires an experienced observer
Liver Copper >250 µg/gm of dry weight liver
Coombs negative haemolytic anaemia
Biochemical indices Abnormal liver function tests
MRI scan Abnormal
Molecular diagnosis Over 200 mutations are known
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Wilson disease
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Symptoms/Clinical Features:
– Mitochondrial Myopathy (proximal
weakness
– CPEO
– retinal degeneration (pigmentary retinopathy)
– Cardiac conduction defects (heart block)
– Ataxia/cerebellar syndrome
– Other symptoms include small stature, deafness, dementia, delayed puberty, and endocrine dysfunction
Mitochondrial disorders
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• Laboratory: Increased CSF protein and lactate • MRI- bilateral subcortical white matter T2 hyperintensities involving basal ganglia, thalamus, and brainstem • Pathology: ragged red fibers
Mitochondrial disorders
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Rhythmic Movement Disorder
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• Body rocking
• Head rolling
• Other less common muscle movements include:
• Body rolling
• Leg rolling
• Leg banging
• A combination of the aforementioned symptoms
• Head banging
Rhythmic Movement Disorder
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Parkinsonism
Tics
Tremors
Chorea
Ataxia
Dystonias
Myoclonus
Mixed
Childhood and Juvenile movement disorders
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THANK YOU