Transcript Movement Disorders in Children

Movement Disorders in Children
Overview
• Childhood movement disorders occur secondary to a wide range of
genetic and acquired disorders affecting brain development.
• Classification by type of abnormal movement
– Bradykinetic disorders
– Hyperkinetic disorders
• Classification by Etiology
– Primary
– Secondary
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Fixed Structural lesion
Degenerative
Metabolic
Drug Induced
Infectious
• Important point
– Any disorder that affects the basal ganglia can cause a wide array of different movement
disorders
– Static brain injury may nonetheless cause a changing movement disorder, as
development and brain plasticity alter the brain’s response to injury.
Basal Ganglia
• Group of deep nuclei
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Caudate nucleus
Putamen
Globus pallidus
Substantia nigra
• dopamine-rich pars compacta
• pars reticularis
• Inputs: Corpus striatum (caudate nucleus and
putamen) receives input from the cerebral cortex and
the thalamus
• Outputs: projects by way of the thalamus to the
cerebral cortex and then to the pyramidal system
Bradykinetic vs. Hyperkinetic
• Bradykinetic disorders
– Very rare in children
– Parkinson disease is the most common bradykinetic disorder
• Hyperkinetic disorders
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Tic Disorders
Dystonia
Sterotypies
Chorea
Athetoses
Ballismus
Tremor
Myoclonus
Dyskinesia
Tic Disorders
• Tics are repeated, intermittent movements that are
almost always briefly suppressible and are usually
associated with awareness of an urge to perform
the movement
• Tourette syndrome : Multiple motor and vocal tics
• Etiology
– Primary:
• the vast majority
– Secondary:
• Huntingtons, encephalitis, medication induced, carbon
monoxide poisoning, neuroacantocytosis
Tics
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Diagnosis:
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Typical movements
Don’t occur in sleep
Patient usually unaware of it occurring
Patient can usually suppress for a short time
But when they do, it is accompanied by a discomfort and a strong urge to do the tic (a
compulsion)
– Wax and wane over time
– Worsen with stress
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Associated with ADHD and OCD
– Make sure to ask both of patient and family history
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PANDAS
Treatment
– Reassurance
• Tics tend to wax and wane; most children outgrow them
– Medications (when necessary)
• Stimulants bring out tics; if the have ADHD, they can’t use stimulants
• Tenex
• Risperidone
Dystonia
• Involuntary sustained or intermittent muscle
contractions that cause twisting and repetitive
movements, abnormal postures, or both.
Dystonia
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Classification of Dystonia
• By location
– Generalized dystonia affects most or all of the body.
– Focal dystonia is localized to a specific part of the body.
• Blepharospasm, Cervical Dystonia, Task Specific Dystonia (eg Writers cramp)
– Multifocal dystonia involves two or more unrelated body parts.
– Segmental dystonia affects two or more adjacent parts of the body.
– Hemidystonia involves the arm and leg on the same side of the body.
• By etiology
– Primary: by definition, no other neurologic impairment
– Secondary: Cerebral Palsy the most common cause in children
– Psychogenic
Primary Dystonias
• Genetic Dystonias
– DYT1 dystonia
• dominantly inherited generalized dystonia
• typically begins in childhood, affects the limbs first, and progresses
• A great deal of phenotypic variability
– Dopa-responsive dystonia (Segawa’s disease)
• onset during childhood and have progressive difficulty with walking.
• Symptoms characteristically fluctuate and are worse late in the day
and after exercise.
• Some forms are due to mutations in the DYT5 gene for GTP
cyclohydrolase 1.
• Patients with this disorder have dramatic improvements in symptoms
after treatment with levodopa
– Many other genes that cause dystonic syndromes have been
found
Secondary Dystonias
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Fixed Injury/Structural:
– Kernicterus,, head trauma, encephalitis; tumors, stroke, congenital malformations
Degenerative:
Fahr's disease , pantothenate-kinase associate dneurodegenerative disease (Hallervorden-Spatz
disease), Huntington's disease, spinocerebellar ataxias ; neuronal ceroid lipofuscinosis; Rett syndrome;
Tay-Sachs disease; Sandhoff's disease; Niemann-Pick type C; metachromatic leukodystrophy; Leigh's
disease; neuroacanthocytosis;;Pelizaeus-Merzbacher disease; ataxia-telangiectasia
Chemical/Metabolic:
Glutaric aciduria; mitochondrial disorders; Wilson's disease; homocystinuria; Lesch-Nyhan disease;
methylmalonic aciduria; tyrosinemia, vitamin E deficiency
Drug- or Toxin-induced:
– Neuroleptic and anti-emetic medications (e.g., haloperidol, thorazine, olanzapine, risperidone,
quetiapine, compazine, prochlorperazine, metoclopramide, etc.); calcium channel blockers;
stimulants , anticonvulsants (e.g., carbamazepine, phenytoin, ); thallium; manganese; carbon
monoxide; ethylene glycol; cyanide; methanol; wasp sting
Paroxysmal:
– Paroxysmal kinesogenic choreoathetosis; familial periodic paralysis; complex migraine; alternating
hemiplegia; paroxysmal torticollis of infancy
Psychogenic
Disorders That Mimic Dystonia:
– Tonic seizures, syringomyelia; Arnold-Chiari malformation type II; posterior fossa mass; cervical spine
malformation, Sandifer's syndrome; spasmus nutans; tics; self-stimulation; spasticity; myotonia;
hyperexplexia; disorders
Work up of Dystonia
• Take careful history of medication, drug and
supplement use
• Consider Genetic testing (especially DYT1)
• Consider empiric trial of levodopa
• Consider metabolic testing: amino acids,
organic acis, Wilsons testing, lysosomal
storage diseases
• Consider MRI
Treatment of Dystonia
• Botulinum toxin
– Particularly for focal dystonias
• Medications
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Anticholinergic agents: trihexyphenidyl and benztropine.
GABAergic agents : benzodiazepines, baclofen
Dopaminergic agents: tetrabenazine
Levodopa for Dopa-responsive dystonia (DRD)
• Deep brain stimulation (DBS)
• Physical and other therapies
Sterotypies
• Repetitive, simple movements that can be
voluntarily suppressed.
• Examples include repetitive chewing, rocking,
twirling, or touching movements
• Most common in children with autism or
mental retardation; can occur in otherwise
normal children.
Rett Syndrome
Chorea, athetosis and ballismus
• Chorea
– an irregular, rapid, uncontrolled, involuntary, excessive
movement that seems to flow randomly from one part of
the body to another.
– The affected child often appears fidgety or restless and
can’t sit still
• Athetosis
– A slower writhing and twisting movement.
• Ballism (ballismus)
– chorea that affects proximal joints such as shoulder or hip,
leading to large amplitude flailing movements of the limbs
Etiology of Chorea
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Fixed injury/Structural
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Degenerative
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Sydenhams chorea
Immunological
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Hyperthyroid, hypoparathyroid, pregnancy, hyper and hypo natremia, hypomagnesemia,
hypoclaciemia, nutrional deficiencies (beriberi, pellagra, B12 deficiency)
Acyl-CoA dehydrogenase deficiency; Lesch-Nyhan disease;; methylmalonic aciduria; vitamin E
deficiency; propionic acidemia;
Infectious
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Neuroleptics, antiparkinson drugs, tricyclics , amphetamines, anticonvulsants, anticholinergics
Metabolic:
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Huntingtons, Neuroacanthocytosis, Ataxia-telangiectasia; Fahr's disease; pantothenate kinase 2
deficiency ("Hallervorden-Spatz disease"); Rett syndrome; Niemann-Pick disease type C , PelizaeusMerzbacher disease; GM1 gangliosidosis, metachromatic leukodystrophy; Wilson's disease ,etc
Drug Induced/Toxins:
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Cerebral Palsy (Kernicterus), Tumor, Trauma, Stroke
SLE, HSP
Migraine
Psychogenic
Kernicterus
Sydenham chorea
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Sydenham chorea is a movement disorder characterized by chorea, emotional lability, and
hypotonia. It is one of the major clinical manifestations of acute rheumatic fever (ARF).
Symptoms of SC usually begin one to eight months after the onset of ARF. The symptoms
typically improve gradually, with a mean duration of 12 to 15 weeks (
At least 30 percent of individuals have clinical carditis in association with SC.
Diagnosis
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Treatment
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The diagnosis of SC is made clinically, based on characteristic neurological findings and a careful cardiac examination.
If carditis is present, this confirms the diagnosis.
The antistreptolysin O (ASLO) titer is of limited use in patients with SC, because titers generally peak before the onset
of SC symptoms and children without rheumatic fever or SC often have low positive titers of ASLO.
The antideoxyribonuclease (anti-DNAse) B titer is more useful for supporting the diagnosis of SC because it tends to
remain elevated longer.
If not clinicually definite, other causes of chorea should be excluded, including systemic lupus erythematosus,
Huntington’s disease, and Wilson’s disease.
Most patients with SC recover fully without treatment, with symptoms lasting from a few weeks to one year or more.
For those with significant impairment of motor function and the possibility of self injury consider corticosteroids (prednisone 1
mg/kg daily for two weeks and then tapered over two to three weeks)
Valproic acid if needed to treat chorea
Up to 30 percent of individuals with SC experience a recurrence, usually within a few years of
the initial episode. The risk is probably reduced, by chronic treatment with prophylactic
antibiotics.
Sydenham Chorea
Athetosis
• http://www.youtube.com/watch?v=gNKKZAf
Mr8M
Work up
• Take careful history of medication, drug and
supplement use
• If acute onset: throat culture and streptococcal blood
antigen test (ASLO, anti-DNAse), electrolytes,
magnesium, calcium, thyroid function, CBC
• Consider amino and organic acid studies, ammonia,
antinuclear antigen (ANA), antiphospholipid antibodies
(APLA), work up for Wilsons disease (start with
ceruloplasmin), evaluation of CBC for acanthocytes.
• Consider MRI
Treatment of Chorea
• May be difficult to treat.
• Taper or discontinue any medications that can cause or worsen
chorea
• In adults, the mainstay of treatment in adults is neuroleptics,
including haloperidol and pimozide.
• In children the incidence of side effects in children is high.
• Therefore, treatment is usually
– Benzodiazepine, particularly clonazepam, diazepam, or clobazam
– Valproate, especially in Sydenham's chorea.
• Sydenham's chorea
– There is considerable debate about whether children with Sydenham's
chorea due to streptococcal infection should be given long-term
antibiotics. There is not yet scientific evidence to support this,
although short-term treatment is certainly needed in order to prevent
complications such as rheumatic fever.
Tremor
• A rhythmic back-and-forth or oscillating
involuntary movement about a joint.
Classification of Tremor
• Classification by type of tremor
– Rest Tremor
• Parkinsons, Wilson Disease, Severe essential tremor
– Action Tremor
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Postural
Kinetic
Intention: Cerebellar Tremor
Task Specific
Isomeric
• Classification by Etiology
– Physiologic tremor
– Essential tremor
– Associated w/ Peripheral Neuropathy: Charcot MarieTooth
– Psychogenic
Etiology of Tremor
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Primary Tremors:
– Enhanced physiologic tremor
– Essential Tremor
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Static (fixed) injury:
Stroke (particularly in the midbrain or cerebellum); multiple sclerosis
Degenerative:
– Juvenile parkinsonism; Wilson's disease; Huntington's disease; Tay-Sachs disease
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Chemical/metabolic:
– Hyperthyroidism; hyper-adrenaline state (including anxiety or
pheochromocytoma); hypomagnesemia; hypocalcemia; hypoglycemia; hepatic
encephalopathy
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Drug-induced
– Valproate; lithium; thyroid hormone; albuterol, tricyclic antidepressants;
stimulants, neuroleptics; cyclosporine; mercury; thallium; nicotine; lead;
manganese; arsenic; cyanide; ethanol
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Psychogenic tremor
Other causes of tremor:
– Peripheral neuropathy, cerebellar disease or malformation,spasmus nutans
Essential Tremor
• Tremor should be the only neurologic
manifestation
• Usually benign, but may progress to a
disabling movement disorder.
• Hereditary ET can begin in infancy
– hereditary chin tremor and shuddering attacks.
Work up of Tremor
• Any medications that may worsen tremor should be
avoided, if possible.
• Check electrolytes, including glucose, calcium and
magnesium, thyroid function, copper in the urine (for
Wilson's disease), and possibly the amount of adrenaline
metabolites (for pheochromocytoma).
• Consider MRI if the tremor had sudden onset,
• Consider EEG if there is suspicion for seizures.
• If parkinsonian features are present, consider a trial of LDOPA
• If there is a family history of tremor, it may be helpful to of
alcohol ( in the affected family member). This suggests
essential tremor.
Treatment of Tremor
• Often, mild tremor does not require
treatment.
• Medications:
– Propranolol
– Primidone
– benzodiazepines (i.e., clonazepam, diazepam,
lorazepam).
Myoclonus
• Sudden, brief, jerky, shock-like involuntary
movements.
• May be triggered by attempts at voluntary
movement, sensory stimulation or startle
• Myoclonus is not suppressible and is often
activated by volitional movement.
• Negative myoclonus is a sudden involuntary
relaxation of a muscle, rather than a contraction.
• Myoclonus is often associated with epilepsy.
Classification and Etiology of
Myoclonus
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Physiological: e.g., sleep myoclonus, benign myoclonus of infancy
Essential Myoclonus: familial essential myoclonus, essential myoclonus-dystonia,
stimulus-sensitive myoclonus
Epileptic: e.g., juvenile myoclonic epilepsy, progressive myoclonic epilepsies,
epilepsia partialis continua, Rasmussen's encephalitis, early infantile myoclonic
encephalopathy, infantile spasms, Lennox-Gastaut syndrome, benign familiar
myoclonic epilepsy, Angelman syndrome
Symptomatic
– Fixed injury: e.g., carbon-monoxide poisoning, hypoxic injury or near-drowning, heatstroke,
trauma, stroke, electrocution
– Storage/Degenerative diseases: e.g., sialidoses, lipidosis, storage diseases, Wilson's disease,
Rett syndrome, mitochondrial disorders, spinocerebellar ataxias
– Infections/Para-infectious: e.g., Creutzfeldt-Jacob disease, steptococcus, viral encephalitis
– Endocrine: e.g., hyperthyroidism, hyponatremia, hypoglycemia
– Structural: e.g., tumors that irritate brain in direct manner or release chemicals into the blood
– Drug-induced/Toxins: e.g., anti-seizure medications, antidepressants, stimulants, liver-toxic
medications, respiratory depressants, corticosteroids, acyclovir, L-dopa
– Associated with systemic illness: e.g., dialysis, renal failure, liver failure, pulmonary disease,
carbon dioxide intoxication