3. Introduction
Movement disorders are abnormal or excessive involuntary movements
Resulting abnormalities in posture, tone, balance, or fine motor control
Categorized as akinetic rigid syndrome and hyperkinetic of dyskinetic
syndrome
• Movement disorders and seizures can be differentiated by preservation of
consciousness
• Except ballism, movement disorders stop during sleep
4. How they differ in children?
Increased occurrence of hyperkinetic movements, rather than bradykinesia
or rigidity
Higher frequency of transient motor phenomena in the 1st year of life
Higher prevalence of paroxysmal movement disorders
Major primary etiology for chronic motor dysfunction being residue of
static encephalopathy
Greater likelihood that symptoms are secondary to hereditary metabolic
disorders
Evolving pattern of movements associated with metabolic disorders
5. Common benign disorders
Benign neonatal sleep myoclonus
Benign myoclonus of infancy
Jitteriness
Shuddering attacks
Paroxysmal tonic upgaze of infancy
Spasmus nutans
Benign paroxysmal torticollis
Benign idiopathic dystonia of infancy
10. Definitions
Chorea: Rapid, jerky, large amplitude, involuntary, proximal > distal
Athetosis: Slower writhing irregular, predominantly hands and wrists
Dyskinesia: Commonly denotes movements of mouth and face
Dystonia: Co-contraction of agonist and antagonist, intermittent or
persistent maintenance of abnormal posture
Ballismus: Violent flinging, irregular
Myoclonus: Sudden shock-like contraction of muscle or muscle group,
involuntary purposeless jerk
Ataxia: Inability to control movements, cerebellar dysfunction
Tics: Rapid, complex, repetitive segmental
Tremor: Rhythmic oscillation about a certain point or position
Stereotypies: Repetitive, patterned involuntary with no apparent function
Movement disorders can be grouped according to the speed of
movements. Fastest being myoclonus, slightly slower will be ballism,
then chorea, then athetosis and slowest dystonia
13. Key questions
Is the pattern of movements normal or abnormal?
What is the distribution?
Is it unilateral or generalized? (eg. Hemidystonia a/w structural lesion)
Is it rhythmic?
Is the number of movements excessive or diminished?
Is the movement paroxysmal (sudden onset and offset), continual
(repeated again and again), or continuous (without stop)?
14. Contd…
Has the movement disorder changed over time?
Do environmental stimuli or emotional states modulate the movement
disorder?
Is it related to sleep? (e.g. hemiballismus/seizure)
Is it associated with functional motor impairment?
Any aggravating or relieving factors?
Is the patient able to suppress it?
Video of abnormal movement is important, which can supplement
witnessing the real-time abnormal movement of the patient
15. History
Detailed birth history
Early development
Previous illness
Drug history
Exposure to potential toxins
Social and family history
17. Contd…
Development h/o:
Motor delay
Associated psychological factors: anxiety, depression, OCD, ADHD, etc.
18. Contd…
Family h/o:
3 generation pedigree chart
Any similar illness, other neurologic disease
Prior pregnancy loss or early infant death
consanguinity
3 generation pedigree, including cousins and siblings of parents
and grandparents can give a clue to the hereditary causes of
movement disorders
19. General examination
Facial dysmorphism
Abnormalities of vision, eye appearance,
alignment or movement
Gross hearing assessment
Skin findings
Basic heart and lung exam
Thyroid exam
Abdominal exam: r/o storage diseases
Musculoskeletal exam
20. Neurological examination
Careful eye examination: nystagmus, tics, extraocular, apraxia, Opsoclonus
Cranial examination: brainstem and cerebellar function
Detailed motor exam
Bulk, tone, power, coordination, reflexes
Sensory exam: of less importance
Signs of meningeal irritation
22. MRI will help in identifying various disorders. Basal
ganglia calcification can be due to Fahr’s syndrome or
pseudohypoparathyroidism and basal ganglia
hyperintensity can be commonly due to Wilson’s
disease (caudate) and kernicterus (Globus pallidus)
23. Contd…
Electrophysiological studies
EMG- dystonia
EEG
ECG
Special tests
Serological assay- ASO, anti-DNAse, ANA, antiphospholipid Ab
Serum Cu/ ceruloplasmin/24 hr urinary copper/ liver biopsy
Test for metabolic disorder
Toxins
Selective absence of IgA- Ataxia telangiectasia
*Other testing for rare disease- based in symptoms and clinical suspicion
25. Inherited condition causing movement disorders
Etiology Age at onset Clinical signs EEG and Imaging Lab and genetics
Glutaric aciduria Type 1 5-10 months Acute encephalopathy,
dystonia, motor impairment,
macrocephaly
CT/MRI: frontotemporal
atrophy
Organic acid in urine,
enzyme assay
Glucose transporter 1
deficiency
Infancy Seizures, developmental
delay, complex motor
movement d/o
EEG improves
postprandially
Low glucose
concentration in CSF
Leigh’s syndrome Birth to first year Diffuse encephalopathy,
dysphagia, dystonia,
myoclonus, hypotonia, central
respiratory insufficiency
MRI: PVL, hyperintense
signal in basal ganglia
and thalamus
High serum/CSF lactate
Lesch-Nyhan syndrome 3-13 months Self-mutilation, facial
grimacing, involuntary
writhing repetitive movement
of arm
Development of kidney
stone
Hyperuricemia
26. Inherited condition causing movement disorders
Etiology Age at onset Clinical signs EEG and Imaging Lab and genetics
PKAN 1st decade Delayed motor and language,
choreoathetosis, dystonia,
dysarthria, dysphagia,
spasticity, retinopathy
MRI: eye of the tiger
sign
Non contributing
Wilson’s disease 1st and 2nd
decade
Dysarthria, gait disturbances,
risus sardonicus, dystonia,
rigidity, tremor, dysphagia
MRI: high signal in
basal ganglia, dentate
nuclei and cerebellum
on T2
KF ring, low serum
ceruloplasmin
Huntington’s disease 2nd decade Neurological and psychiatric
symptoms, chorea, rigidity,
Hypokinesia
MRI: non specific
generalized or striatal
atrophy
Non contributing
Early onset torsion
dystonia
3-26 years Dystonia affecting first one
arm or leg progressing to
generalized or multifocal
Development of kidney
stone
Hyperuricemia
27. Dystonia
Hyperkinetic movement d/o
Characterized by sustained or intermittent muscle contractions causing
abnormal movements, posture or both
Circuit disorder results from injury or malfunction in any of the nuclei
within motor cortex
Hallmark: simultaneous contraction of agonist and antagonist mucle
28. Dystonia contd…
Focal: confined to single region
Ocular muscles: Blepharospasm
Tongue: lingual dystonia
Vocal cord, mouth, neck, hand (Writer’s cramp)
Segmental: spreading to contiguous area
Cranial: face and neck
Axial: neck and trunk
Brachial, crural
Generalized
Hemidystonia: one side of body involved
29. Dystonia contd…
Type of Onset:
Acute dystonia
Tardive dystonia
Paroxysmal dystonia:
Familial paroxysmal dystonic choreoathetosis
Paroxysmal kinesigenic dystonia
Exercise induced paroxysmal dystonia
Paroxysmal hypnogogic dystonia
Chronic progressive/non-progressive dystonia
Common cause of non-
progressive dystonia is
dyskinetic CP due to
kernicterus or birth asphyxia
31. Ataxia
Inability to make smooth, accurate and coordinated movements
Dysfunction of cerebellum, its inputs or outputs, posterior columns or their
combination
Generalized or primarily affect gait or the hands and arms or trunk
Acute or chronic/ acquired or genetic
S & S: clumsiness, difficulty walking or sitting, falling to 1 side, slurred
speech, hypotonia, intension tremor, dizziness and delayed motor
development
37. Tremor
Regular rhythmic, repetitive, oscillatory movements
Pathophysiology: injury/insult to cortex, basal ganglia, brainstem,
cerebellum or periphery
Types:
Resting tremor: resolves or decreases with movement
Action tremor: elicited by initiating movement
Physiologic tremor: stress, caffeine, fatigue
Rubral tremor: Holmes tremor or midbrain tumor
Psychogenic tremor
Drug induced: bronchodilators, thyroid hormone, steroids, stimulants, etc.
38. Tics
Rapid, arrhythmic, repetitive movements or sounds that wax and wane
over weeks to months
Types:
Simple: blinking or sniffing
Complex: gesticulating or uttering
Transient: < 12 months
Chronic motor or vocal tics: last at least 1 year
39. Tics contd…
Tourette syndrome
Combination of motor and vocal tics
Duration of at least 1 year
Onset before age of 18 yrs
Exclusion of other causes (drugs,
Huntington disease, post viral)
A/w ADHD, OCD or behavioral
problems
40. Tics contd…
Pediatric autoimmune neuropsychiatric disorders associated with
streptococcal infections (PANDAS)
Now regarded as controversial diagnosis
Abrupt onset tics or OCD after infection with group A β-hemolytic
streptococcus
Motor hyperactivity and adventitious movements but not frank chorea
42. Stereotypy
Repeated, purposeless movements
Primary: indicating physiologic basis
Secondary: associated with other neurodevelopmental problems like
Pervasive developmental disability – autism spectrum disorder, Rett syndrome
Intellectual retardation
Sensory deprivation – congenital blindness/deafness
Inborn errors of metabolism – Lesch-Nyhan syndrome
Genetic – neuroacanthocytosis
43. Myoclonus
Involuntary muscle jerk, cannot be suppressed
Uncommon in children, should be evaluated for epileptic myoclonus
Subdivided according to anatomic loction:
Cortical – sensorimotor cortex, e.g., progressive myoclonus epilepsy,
Angleman’s syndrome, Huntington’s disease, Rett’s syndrome, etc.
Subcortical – thalamus or brainstem, e.g. palatal myoclonus, hyperkplexia, etc.
Spinal – longer duration more variable than cortical or subcortical, e.g. post-
trauma, ischemic myelopathy, etc.
Peripheral – peripheral nerve lesion where sensory input is affected, e.g.
hemifacial spasm
44. Opsoclonus-myoclonus-ataxia
Syndrome
Rare, autoimmune, seen between 1 and 5 yrs
50% are associated with Neuroblastoma, rest idiopathic or post-infectious
Robust myoclonus and Opsoclonus: seen as multidirectional, darting,
chaotic, conjugate eye movements
Excessive irritability, sleep disturbances and mutism
Clinical diagnosis but Neuroblastoma screening is mandatory
Treatment: immunosuppression and supportive
Prognosis: unfavorable neurologic outcome, significant affected are left
with motor and cognitive sequele
45. Key points
Establishing phenomenology is key to diagnosis
Every movement disorders has its own characteristic and combinations of
them are also not rare
Presence of neurological and non-neurological causes, epilepsy and
epilepsy mimics should also be considered
Diagnostic workup to be done to locate the cause behind and accordingly
plan for treatment
Keep you camcorder ready; patient never gives you second chance