Pediatric movement disorders
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A general approach and individual movement disorders
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Pediatric movement disorders
- 1. Pediatric Movement Disorders PRESENTER: DR. KIRAN SHARMA RESIDENT, PEDIATRICS LMCTH, PALPA
- 2. Overview Introduction Common benign movement disorders Pathophysiology Causes Approach Individual movement disorders
- 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
- 6. Movement disorder Pyramidal syndrome Spasticity Cerebellar disorders Ataxia Basal ganglia disorders Hypokinesia Akathisia Rigidity Hyperkinesia Tremor Dystonia Myoclonus Chorea/ Athetosis Tic/ Stereotypy Miscellaneou s
- 7. Pathophysiology Structures responsible for motor control UMN/LMN Cerebellar circuitry Basal ganglia circuitry Motor activation cortex Sensory cortex Basal ganglia Caudate nucleus: chorea Putamen: dystonia Substantia nigra: bradykinesia Subthalamic nuclei: ballismus Globus pallidus: athetosis
- 8. Motor cortex
- 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
- 11. Chorea • Rheumatic • SLE • Thyrotoxicosis • Hypoparathyroidism • Drugs • Inherited • Renal failure • Basal ganglia infarction Dystonia • Perinatal hypoxia/trauma • DYT1 • DOPA responsive • Encephalitis • Basal ganglia stroke/trauma • Juvenile Wilson • Drugs Myoclonus • Epileptic • Mitochondrial (MERRF) • GM2 gangliosidosis • Biotinidase/carboxylase deficiency • Renal/hepatic failure • Hyperglycemia • SSPE • Opsoclonus myoclonus syn. • Post-hypoxia • Drugs Athetosis • Perinatal hypoxia/trauma • Kernicterus • Sandifer syndrome Tremors • Essential • Hypoglycemia • Hypocalcemia Bradykinesia • Juvenile Parkinson’s disease • Juvenile Wilson’s disease
- 12. A general approach to movement disorders in a child
- 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
- 16. Contd… Birth h/o: Birth weight, head circumference Pregnancy complications NICU/nursery stay Jaundice Maternal substance abuse
- 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
- 21. Investigations CBC leukocytosis : infective Raised ESR : SLE Biochemical: RFT, LFT,RBS ,Electrolytes Throat culture Imaging: CT SCAN , MRI, USG, ECHO
- 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
- 30. Dystonia contd… Primary dystonia Idiopathic torsion dystonia (IDT)/dystonia musculorum deformans (DMD) Dopa-responsive dystonia/Diurnal dystonia (Segawa syndrome) Secondary dystonia Congenital, hereditary, metabolic, vascular, infection, degeneration, demyelination, tumor, drugs, toxins, etc. Treatment: trihexyphenidyl, dopamine agonists, baclofen, clonazepam, carbamazepine, BTX, surgical
- 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
- 32. Ataxia causes Congenital anomaly: Dandy Walker malformation, Chiari malformation, Encephalocele Agenesis of cerebellar vermis Joubert syndrome and related disorders – molar tooth sign on MRI Infectious: Cerebellar abscess, acute labyrinthitis, acute cerebellar ataxia Acute cerebellitis Toxins: alcohol, thallium, phenytoin, carbamazepine Brain tumors: cerebellum and frontal lobes, Neuroblastoma Metabolic: abetalipoprotenemia, arginosuccinic aciduria, Hartnup disease Degenerative disease: Ataxia-telangiectasia, Friedreich ataxia, spinocerebellar ataxia Miscellaneous: Pelizaeus-Merzbacher disease, neuronal ceroid lipofuscinoses, GM2 gangliosidosis, Vit-E deficiency
- 34. Chorea Involuntary, purposeless, jerky, dance-like movements Athetosis: slow, writhing form of chorea Ballismus: forceful, flinging form of chorea Pathophysiology: injury to basal ganglia, esp. striatal indirect pathway
- 35. Chorea causes Structural: Ischemic stroke, tumor, Moyamoya disease Metabolic/endocrine: electrolyte disturbance, hyper/hypoparathyroidism Autoimmune: encephalitis, SLE, Sydenham’s chorea, antiphospholipid antibody syndrome Genetic: Wilson’s disease, Huntington’s disease, Ataxia-telangiectasia, PKAN, Fahr’s disease, Leigh’s syndrome, Lesch-Nyhan syndrome, spinocerebellar ataxia 1, 2, 3, 17
- 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
- 41. Tics contd… Treatment 1st tier drugs: α2 agonists (clonidine, guanfacine) 2nd tier drugs: atypical antipsychotics (risperidone, olanzapine) 3rd tier drugs: typical antipsychotics (haloperidol, pimozide, fluphenazine) Others: tetrabenazine, botulinum toxin Tics rule of three • One-third disappear • One-third are better • One-third continue
- 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
- 46. References Nelson textbook pediatrics, 20th edition Fenichel’s clinical pediatric neurology, 7th edition Algorithms in pediatrics, 1st edition