Transcript Dyskinesias in Children/Adolescents CPT Timothy L. Switaj, MC, FS, USA Neurology (Child) Intern.

Dyskinesias in
Children/Adolescents
CPT Timothy L. Switaj, MC, FS, USA
Neurology (Child) Intern
Objectives
• To demonstrate the basic abnormal
movements in children/adolescents
• To begin to think about a differential
for each type of movement
• Brief discussion of the most likely
etiologies of the abnormal
movements
Basic Movement Types
• * Chorea/Athetosis
– Ballismus
• Dystonia
• Hemifacial Spasm
• Mirror Movements
• * Myoclonus
• Stereotypies
• * Tics
• * Tremor
• Fasciculations
• Myokymia
• Seizures
Things to ask yourself
when seeing patient
• What does the movement look like?
– Is it rhythmical, jerky or “dancelike”?
• Can it be suppressed?
• What medications is the patient
taking?
• Any Family History of similar
movements?
General Characteristics
(1)
• Chorea/Athetosis – usually seen together
– Chorea – rapid movement affecting body part that is
incorporated into voluntary movement to hide it, NO
FIXED FORM
• Constant movement (restlessness)
• Movements flow from side to side and limb to limb
– Athetosis – slow, writhing movement of the limbs
• Can occur alone but usually associated with chorea –
athetosis without chorea is due to perinatal brain injury
(most likely perinatal asphyxia)
– Ballismus – high-amplitude, violent flinging of a limb (an
extreme form of chorea)
– Tardive Dyskinesia – uncommon in children
General Characteristics
(2)
• Dystonia – sustained muscle contractions
– Can be focal, segmental, hemi or generalized
• Hemifacial spasm – involuntary, irregular
contraction of muscles innervated by one facial
nerve
– Very rare in children
• Mirror movements – involuntary movements of one
side of body that are mirror reversals of
intended movements on the other side
– Normal during infancy and disappear before
age 10 – persistence can be familial trait
– Obligatory movements are abnormal at any age
General Characteristics
(3)
• Myoclonus – involuntary movements
characterized by rapid muscle jerks
– Can be rhythmic, nonrhythmic; focal,
multifocal or generalized; spontaneous,
action or reflex
• Stereotypies – repeated, purposeless
movements
– Can be simple or complex
General Characteristics
(4)
• Tics – “habit spasms”; complex,
stereotyped movements or
utterances that are sudden, brief
and purposeless
– As opposed to chorea, are stereotyped
– Can be suppressed for short periods,
with some discomfort and are never
part of a voluntary movement
General Characteristics
(5)
• Tremor – involuntary oscillating
movement with a fixed frequency
– Product of frequency and amplitude are
constant
• Frequency decreases with age, amplitude
increases
– Shuddering, ataxia and dysmetria are
not tremor because they lack rhythm
General Characteristics
(6)
• Fasciculations
– Rippling movements of a small group of muscles,
benign with low amplitude common in young
• Myokymia
– Slow, worm-like, undulating movements usually
in the face but also in the large limb muscles
• Seizures
Chorea - Differential
• Neurodegenerative diseases (Huntington’s)
• Lesions of the basal ganglia
• Drugs (Dopamine agonists, stimulants, opiates,
antiepileptics, estrogens)
• Metabolic conditions (Wilson’s, hyperthyroid,
hyperglycemia, hypoglycemia, electrolyte
disorders)
• Systemic disorders (Syndenham’s, lupus, chorea
gravidarum)
• Essential chorea syndromes
• Paroxysmal chorea
• Cardiopulmonary bypass (1 to 10%)
Huntington’s - Genetics
Autosomal dominant, full penetrance, 50% chance to pass to
Offspring, CAG repeat of greater than 39 is diagnostic
Huntington’s - Features
• Age of onset typically 35-45, but
childhood to >80 has occurred
• Chronic, progressive, generalized chorea
• Failure of indirect pathway
• Can have other movement disorders
present (parkinsonism, dystonia and tic)
• Dementia late in disease
Syndenham’s - Features
• A.K.A. Rheumatic Chorea
• 10 to 30% of cases of rheumatic fever
• Symptoms appear 1 to 6 months after infection
and last 5 to 15 weeks
• Recurs in 20% of patients
• Can cause mental status changes
• Most cases in ages 5 to 15
• Migratory chorea of limbs and face
• Cardinal features of chorea, hypotonia, dysarthria
and emotional lability
• Treatment with steroids and treatment for
infection
Chorea Gravidarum
• Due to antiphospholipid antibody
syndrome, with or without SLE
• Usually during 2nd to 5th month,
sometimes postpartum
• Cognitive changes may be present
• Symptoms resolve spontaneously in
weeks to months
Chorea –
workup/treatment
• Neuroimaging, glucose, electrolytes,
thyroid studies, CBC with smear, copper
studies, genetic studies
• Treat underlying cause
• Can use clonazepam as first line
• Neuroleptics are second line
• Follow-up important because chorea tends
to evolve
Myoclonus - Evaluation
• Distribution
– Generalized, focal, multifocal, segmental
• Temporal profile
– Continuous, intermittent
• Activation
– Rest, voluntary, stimulus
Myoclonus - classification
• First – determine major category
• Second – match clinical and
lab/radiology findings with diagnosis
within major category
Myoclonus - Categories
•
•
•
•
Physiological
Essential
Epileptic
Symptomatic
Myoclonus - Physiologic
•
•
•
•
•
Neurologically normal persons
Sleep jerking – most common
Also be anxiety or exercise related
Diagnosis based on history alone
NO TREATMENT NEEDED
Myoclonus - Essential
• Clinically significant jerking occuring at any time
• Usually most prominent or only finding
• Differs from physiologic because of social or
physical disability
• Condition progresses slowly or not at all
• Hereditary (Autosomal dominant) or sporadic
• Face, trunk and proximal muscles
• Clinical features and family history make
diagnosis
• Clonazepam drug of choice is treatment needed
Myoclonus - Epileptic
• In persons with chronic seizure disorder
and epileptiform activity on EEG
• Juvenile Myoclonic Epilepsy
– Myoclonic seizures with generalized tonicclonic or absence
– Onset in adolescence with peak between 12 and
18
– Abnormality on chromosome 6
Myoclonus - symptomatic
•
•
•
•
•
•
•
Neurodegenerative syndromes
Infection/Postinfection
Drugs, toxins, metabolic disorders
Hypoxia
Focal or segmental
Paraneoplastic
Post-CNS injury
Myoclonus –
workup/treatment
• Electrolytes, glucose, renal and
hepatic function testing, drug and
toxin screening, brain imaging, EEG
• Genetic studies, tissue biopsy and
CSF studies as clinically indicated
• Treatment is clonazepam
• Valproic acid for JME
Tics
• Can be suppressed for short periods
of time
• Simple or complex
• Transient tics occur in 20% of
children under 10 years of age
• Gilles de la Tourette syndrome
Tourette’s
•
•
•
•
•
•
•
•
•
10 cases per 10,000 population
Onset between 2 and 15 (mean 6.5)
Vocal tics begin 1 to 2 years after motor tics
75% are tic free by 18 years old
Increase in severity with stress, caffeine, stimulants,
fatigue, heat, steroids
Decrease with THC, alcohol, nicotine and decrease in mental
activity
Disability usually social but may be physical injury
50% also with ADHD, 30 to 50% with OCD
Multiple other behavioral problems
Tourette’s
• Diagnosis:
–
–
–
–
Multiple motor and one or more vocal tics
Onset before age 18
Tics occur many times a day, nearly every day
Variation in location, frequency and complexity
over time
– Not related to toxins or CNS disease
– Symptoms cause impairment
Tourette’s
• Genetic factors in 75% with bilineal
transmission in 25%
• Radiologic/Laboratory workup not needed
• Treatment
– Clonidine, benzodiazepines, haldol, risperdal,
clozapine, reserpine
• Surgery for drug-resistant tics, but not
shown effective in Tourette’s
Tremor
• All people have a physiologic tremor
inherent in movement that cannot be
normally noticed unless measured
• Fine or coarse
• Resting, postural, action
Connor GS et al. Esential Tremor: A Practical Guide to Evaluation,
Diagnosis, and Treatment. Clinician, 19(2): 2001.
Tremor - differential
• Drug induced (Anticonvulsants,
antidepressants, caffeine, steroids)
• Hyperthyroidism
• Juvenile Parkison’s disease (Not
common)
• Paroxysmal Dystonic Head Tremor
• Essential tremor
Essential tremor
• 1 in 20 arise in childhood
• 70% of pediatric cases in males
• Not associated with other neurologic
disturbances
• Genetics – ETM1 on 3q13, ETM2 on 2p25,
complete penetrance, autosomal dominant
• Most common movement disorder
• Prevalence of 0.1 to 22% worldwide
• 20 times more common than Parkinson’s
ETM1 – Chromosome
3q13
ETM2 – Chromosome
2p25
Essential tremor Features
• 4 to 8 hertz
• Usually in limbs, occassionally head and face
• Appears first in hands because it is enhanced by
greater precision movements
• Can be postural (early) and action (later)
• Generally life-long
• Can impact writing and other functions
• Worsening due to enhanced physiologic tremor
• Enhanced by anxiety, attempts to suppress,
fatigue
• Tremor can become severe with significant
disability
Connor GS et al. Esential Tremor: A Practical Guide to Evaluation,
Diagnosis, and Treatment. Clinician, 19(2): 2001.
Essential Tremor –
workup/treatment
• Neuroimaging normal, pathology not
indicated, genetic research possible if
familial
• Treatment usually not needed
• If needed use beta-blockers first
– Then anticonvulsants, benzos, calcium channel
blockers, botox
• If severe tremor, drug-resistant, deep
brain stimulation
DBS - Thalamus
DBS - Localizing
DBS - Leads
References
• Postgraduate Medicine, 108(5), Oct
2000.
• Pranzatelli MR. Movement Disorders
in Childhood. Ped Rev, 17(11): 1996.
• Gerald M. Fenichel. Clinical Pediatric
Neurology, 4th Edition. 2001.
• All videos courtesy of Dr. Difazio