Mayo Clinic 2 - 27 - Childhood Movement Disorders

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Most common form of movement disorder in children?

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Hyperkinetic

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Benign hereditary chorea is characterized by

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Early childhood onset of a relatively nonprogressive chorea, which is not associated with intellectual deterioration and may diminish during adolescence or persist into adulthood

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Cause of benign hereditary chorea (BHC)

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AD disorder with a mutation in the NKX2.1 gene, which encodes for thyroid transcription factor 1

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What distinguishes BHC from Huntington?

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Lack of progression of chorea and absence of dementia

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Eye of the tiger sign on MRI is typical for (4)

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1. Neurodegeneration with brain iron accumulation

2. Progressive supranuclear palsy

3. Early-onset levodopa responsive parkinsonism

4. Cortical-basal ganglionic degeneration

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Patients with juvenile onset Huntington disease typically present with

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1. Parkinsonism

2. Speech deficits

3. Intellectual abnormalities

4. Seizures

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MRI in patients with Juvenile Huntington disease shows

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1. Atrophy of the caudate head

2. Generalized cerebral and cerebellar atrophy in later stages

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Most common acquired chorea in childhood

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Sydenham chorea; considered a manifestation of rheumatic fever, a sequela of GAS infection, and may precede the chorea by 1 to 6 months

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Typical onset of Sydenham chorea

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Subacute, developing over hours to days, beginning with clumsiness, restlessness, and fatigue. Parents commonly report that their children are having difficulty with activities of daily living and fine motor tasks such as getting dressed or writing

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Sydenham chorea is characterized by (3)

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1. Sudden, quick, uncoordinated motions, and the athetosis is writhing in nature.

2. Speech is dysarthric, combined with inappropriate adventitial facial movements

3. Personality changes may occur

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Treatment of Sydenham chorea

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Secondary prevetion with daily oral penicillin or monthly intramuscular penicillin injections until age 21

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What is kernicterus?

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chronic bilirubin encephalopathy that is caused when the brain tissue is exposed to toxic levels of unconjugated bilirubin

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The three classic sequela of kernicterus are

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1. Hyperkinetic movement disorder

2. Auditory dysfunction

3. Oculomotor impairments, especially impairment of upgaze

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Dyskinetic (athetotic) cerebral palsy is

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a static motor impairment that occurs from insults acquired before, at, or immediately after birth

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Four major types of dyskinetic cerebral palsy

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1. Spastic (about 50%)

2. Dyskinetic (about 20%)

3. Ataxic (about 10%)

4. Mixed (about 20%)

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Treatment of dyskinetic cerebral palsy?

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Individualized and if coused on the dyskinetic symptom causing the greatest difficulty

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Postpump chorea is described in which patients?

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As a complication of cardiac surgery in approximately 1% of cases, this occurs because of injury to the striatum, which is likely selectively vulnerable at this age

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Dyskinetic forms of cerebral palsy tend to occur in which children

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Term infants who have severe perinatal asphyxia; however, the cause of dyskinetic cerebral palsy may be heterogenous and include metabolic or genetic components

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Segawa syndrome

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Autosomal Dominant; Dopa-responsive dystonia (DYT5)

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Protein deficiency in Segawa syndrome

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BH¤, which is a cofactor for tyrosine hydroxylase, the rate-limiting step in dopamine synthesis. Thus, deficiency of BH4 leads to a decreased production of dopamine

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Prominent feature of Segawa syndrome

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More severe symptoms during the day and improve after sleeping, although some do not experience these fluctuations

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Diagnosis of Segawa syndrome

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Based on clinical assessment, CSF examination, and genetic testing

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Important note about dystonias in children

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Empirical trial of levodopa should be considered for any child with dystonia

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Onset of dystonia in Segawa syndrome

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Patients often present with a gait disturbance from dystonia of the lower extremity of equinovarus posturing of the foot, later the dystonia becomes more generalized and features of parkinsonism may appear

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Onset of dystonia in adolescent-onset mixed-type dystonia

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Approximately 50% of affected patients, the onset of dystonia is in the cranial or cervical musculature; the other half have a phenotype typical of DYT1

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Features of DYT11

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1. AD; also known as myoclonus-dystonia syndrome

2. Mild dystonia that usually manifests with torticollis or limb dystonia

3. OCD and other psychiatric signs and symptoms may be present

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Gene mutation in DYT11

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e-sarcoglycan

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What is NBIA?

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Heterogenous group of disorders differentiated by clinical, radiographic, and molecular features; all have abnormal iron accumulation in the brain

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Course of PKAN

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Pantothenate kinase-associated neurodegeneration presents with a variable course: progressive neurodegeneration may cause severe disability and death within 1 to 2 years (classic), or the more prevalent and slowly progressive dystonia and spasticity may lead to permanent disability and death by 20 years of age

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What is the "eye of the tiger" MRI sign

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Bilateral areas of hyperintensity within a hypointense medial globus pallidus on T2-weighted images

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Symptoms of DYT begin

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in childhood, usually before the age of 10 years, with progressive dystonia, and a sustained dramatic response to low doses of levodopa

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Which disorder accounts for most patients with NBIA?

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PKAN and is caused by mutations in the PANK2 gene encoding panthotenate kinase 2

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How is the diagnosis of PKAN made?

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1. By the presence of progressive extrapyramidal signs beginning in the first 2 decades

2. By the nearly pathognomic MRI abnormality, which shows the "eye of the tiger" sign

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Most common persistent childhood tremor

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Benign familial or essential tremor; mean age at onset is 7 years

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Benign familial tremor primarily involves

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1. Arms

2. May involve a postural tremor and an action tremor; tremor is absent at rest

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Characteristics of benign familial tremor

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1. 5-8 Hz

2. Exacerbated by stress, anxiety, and antigravity posture

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Tremor frequency of physiologic tremor

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8-12 Hz; usually not visually apparent

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Initial approach to an otherwise healthy child in assessing tremor should be

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1. To assess for hyperthyroidism

2. Thoroughly review medications

3. Brain imaging or gene testing may be warranted if something in the history pops up

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Cause of Wilson disease?

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Mutation in the ATP7B gene, which encodes for the copper-transporting P-type ATPas ATP7B; liver gets saturated with copper, and the additional copper then enters the circulation and is deposited in other tissues

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Back 40

Kayser-Fleischer ringa brown to yellow-green discoloration in Decemet membrane at the limbus of the iris, is frequently seen in patients with Wilson disease

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Diagnosis of Wilson disease (4)

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1. Because Wilson disease is treatable, it should always be considered in children with new onset dystonia or tremor

2. Search for low ceruloplasmin levels is a good initial screening

3. Increased 24-hr urinary copper excretion and slit-lamp examination are helpful

4. When in doubt, do a genetic testing for ATP7B

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Treatment of Wilson disease

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1. Chelating agent, such as penicillamine or trientine, with or without zinc

2. Dietary restriction

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MRI findings in Wilson disease

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1. T2 hyperintensity signals in the thalami and basal ganglia

2. Rarely, the "face of the panda" sign in the midbrain

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Psychogenic tremor can be distinguished from tremor with an organic basis how?

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By its distractability and variable frequency, amplitude, and axis

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Treatment of psychogenic tremor (3)

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1. Often they have anxiety or a PTSD disorder as well, working with a psychologist will be helpful to the patient

2. Treatment should be supportive, rather than confrontational

3. Benzodiazepines may be useful if the symptoms are intermittent

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Most common movement disorder in children

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Tics

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Definition of transient tic

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Tics that last for at least 4 weeks and resolve before 1 year

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Average age at onset of Tourette syndrome?

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6 years of age

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There are a few behavioural disorders associated with Tourette, what are they?

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1. ADHD (over half of children)

2. OCD

3. Depression

4. Other behavioural disorders

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Treatment goals for Tourette

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Reduce frequency of tics rather than completely suppress them

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Drugs used to treat tics

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a2-adrenergic agonists, such as clonidine

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For severe tics, which drugs are used

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Neuroleptics and atypical neuroleptics; side effects frequently limit their use, however

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Primary myoclonic disorders

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1. Essential myoclonus - mild, multifocal myoclonic syndrome

2. Primary epileptic myoclonic disorders

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Clinical course of essential myoclonus

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Slowly progressive for a few years after onset, and then stabilize; its long-term course is benign

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Characteristics of OMA syndrome

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Acute or subacute onset of rapid, "dancing" eye movements (opsoclonus) and myoclonic jerking movements of the limbs or trunk

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Opsoclonus seen in OMA syndrome

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Temporally unrelated to myoclonus, consists of rapid (up to 8 displacements or rotations per second), irregular, conjugate eye movements, mainly horizontal

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Causes of OMA syndrome

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1. Neoplastic, in which case neurologic symptoms may appear before a tumor is found

2. Infectious

3. Idiopathic

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Treatment of OMA syndrome?

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Varies from complete recovery in 3 months to persistence over several years; most cases show a remarkable response to corticotropin or other immunosuppressive therapy

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What are startle syndromes?

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An exaggerated motor response to an unexpected auditory, visual, or somatosensory stimuli

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Most well known startle syndrome

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Hereditary hyperekplexia; also known as familial startle disease; a nonepileptic paroxysmal movement disorder characterized by exaggerated stimulus-induced myoclonus

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Inheritance pattern of familial startle disease?

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Autosomal dominant, usually; mutations in the a subunit of the inhibitory glycine receptor (GLRA1) gene, which acts at the inhibitory chloride receptor

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How do patients with the major form of hereditary hyperkplexia present?

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In the neonatal period with persistent hypertonia during wakefulness and failure to thrive due to constant startle and stiffening (also referred to as stiff baby syndrome)

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In the major form of hereditary hyperkplexia, which muscles are mostly involved?

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Shoulder girdle muscles are particularly stiff, and the phenomenology of the startle involves flexion and extension of the neck and abduction of the arms

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Most common form of all the paroxysmal dyskinesias

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Paroxysmal Kinesigenic Dyskinesia (PKD [DYT10]) is the most common form of all the paroxysmal dyskinesias

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PKD is characterized by (5)

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1. Episodic attacks of unilateral or bilateral dystonia or choreoathetosis, precipitated by sudden movement

2. Short duration (<1 minute)

3. Can occur up to 100 times a day, but typically more sporadic

4. May have n aura of tightness or other cague sensation before these episodes

5. Age at onset 5 to 15 years in familial cases

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Treatment of PKD

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Dramatic effect of anticonvulsants

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Clinical course of PKD?

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Attacks may diminish during adulthood, and patients do not typically have progressive neurologic deficits

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The different types of paroxysmal dyskinesias

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1. Paroxysmal kinesigenic dyskinesia

2. Paroxysmal nonkinesigenic dyskinesia

3. Paroxysmal exertion-induced dyskinesia

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Most commonly, ataxias in children are

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static and nonspecific, and the children are clumsier than their peers or are ataxic because of associated congenital cerebellar malformations

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Second most common cause of ataxia?

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Acute ataxias

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Clinical features of acute cerebellar ataxia (3)

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1. Usually occurs in children aged 2 to 5

2. UYsually develops days to weeks after a clinical or sublicnical infection or vaccination

3. Most often present with a sudden disturbance of gait and balance

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Lab studied in acute cerebellar ataxia?

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Mild CSF pleocytosis, and neuroimaging study findings are typically normal

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Treatment of acute cerebellar ataxia

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Supportive, and approximately 90% of children completely recover from the ataxia, typically within the first few months after the onset

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Underlying pathology of episodic ataxias and characteristics

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Autosomal dominant channelopathies characterized by recurrent episodes of cerebellar ataxia, vertigo, dysarthria, and nystagmus, starting in childhood and lasting for minutes or hours, with otherwise normal brain functions

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Prognosis of episodic ataxia type 1

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Good, with attacks becoming milder in adulthood; in childhood ataxia of the trunk and extremities may be so severe they cannot stand without assistance

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Characteristics of episodic ataxia type 2

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1. Most common form

2. Begin in early childhood

3. More severe form, attacks lasting hours to days, and attacks are more commonly associated with nausea, vomiting, and vertigo

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Feature of episodic ataxia type 1 that is not seen in type 2

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Interictal myokymia, the presence of continuous muscle activity, of the hand, tongue, or eyelids

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Treatment of episodic ataxia

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Acetazolamide reduces both frequency and severity

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clinical features of spinocerebellar ataxias (SCAs) (7)

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1. Progressive ataxia

2. Extrapyramidal symptoms

3. Retinal degeneration

4. Deafness

5. Ophthalmoplegia

6. Dorsal column dysfunction

7. Peripheral neuropathies

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benign, transient and developmental movements disorders seen in childhood

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1. Benign myoclonus of early infancy

2. Jitteriness

3. Shuddering

4. Spasmus nutans

5. Stereotypies

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Benign myoclonus of early infancy is characterized by

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1. Clusters of myoclonic spasms

2. Resembling infantile spasms, that involve flexion or extension of the neck, trunk and extremities

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Onset of benign myoclonus of early infancy

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Between 3 and 9 months of age and occurs only during wakefulness; typically resolve completely by 15 months of age and do not require treatment other than reassurance of parents

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Characteristics of jitteriness

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1. Commonly seen within the first week of life and is present in up to 50% of normal term infants; however, it may acommpany hypoxic-ischemic injury or electrolyte deranbgements

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Characteristics of jitteriness

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1. Generalized, symmetric, rhythic oscillatory movements that resemble tremor or clonus

2. Sensitive to stimuli

3. Triggered by startle or crying and suppressed by passive flexion of the limb

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When does jitteriness resolve?

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Most shortly after birth, however, it may persist up to 6 months of age

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What is shuddering

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Periods of rapid tremor of the head, shoulders, and arms that resemble shivering

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Triad of spasmus nutans

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1. Vertical ("yes-yes") or horizontal ("no-no") head tremor

2. Pendular nystagmus

3. Head tilt

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Common examples of stereotypies

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1. Head banging

2. Rocking

3. Jumping

4. Flapping of the hands or arms