Movement Disorders

109.1 Basal Ganglia Anatomy, Biochemistry, and Physiology

109.2 Cerebellar Anatomy, Biochemistry, and Physiology

109.3 Classification of Movement Disorders

109.4 Diagnostic Evaluation of Children with Movement Disorders

• • History
  • Examination
    • The Physical and Neurologic Examination
      • The General Physical Examination
      • The Neurologic Examination
        • Mental Status and General Cognitive and Emotional Cerebral Function
        • Expressive and Receptive Language
    • Cranial Nerves
    • Motor Examination
    • Sensory Examination
    • Cerebellar Examination
    • Tremor Examination
  • Diagnosis
    • Patterns Based on Phenomenology and Time Course
    • Proximate Causes as Possible Etiologies for Acute- and Subacute-Onset, Acquired Movement Disorders
    • Stepwise, Organized Approach to More Difficult Chronic Diagnoses
      • Understanding the Phenomenology
      • Identifying the Anatomic Substrate
      • Incorporating the Time Course into the Diagnostic Process
      • Role of the Family History of Neurologic and Psychiatric Conditions
      • Nonneurologic, Key Features of History or Physical Examination
      • Utilizing electronic resources

109.5 Developmental Movement Disorders in Children

• Benign Neonatal Sleep Myoclonus
• Benign Myoclonus of Early Infancy (Benign Infantile Spasms)
• Shuddering
• Jitteriness
• Paroxysmal Tonic Upgaze of Infancy
• Spasmus Nutans
• Head Nodding
• Benign Paroxysmal Torticollis
• Benign Idiopathic Dystonia of Infancy
• Sandifer Syndrome
• Posturing during Masturbation

109.6 Tics and Tourette Syndrome

• Tic Phenomenology
• Tic Disorders
  • Transient Tic Disorder
  • Provisional Tic Disorder (Tic Disorder-Diagnosis Deferred)
  • Chronic Motor or Phonic Tic Disorder (CMVTD)
  • Tourette Syndrome and Tourette’s Disorder
  • Tic Disorder; Not Otherwise Specified
  • Tourettism, Tourette-like, or Secondary Tic Disorder
• Pathophysiology of Tic Disorders
  • Neuroanatomic Localization
    • Striatum
    • Cortical
  • Neurotransmitter Abnormalities
    • Dopamine
    • Serotonin
    • Glutamate
• Etiology
  • Genetic Basis
  • Autoimmune Disorder
• Associated Behaviors and Psychopathologies in Tic Disorders
  • Attention-Deficit Hyperactivity Disorder
  • Obsessive-Compulsive Disorder
  • Anxiety and Depression
  • Episodic Outbursts (Rage) and Self-Injurious Behavior
  • Other Psychopathologies
    • Academic Difficulties
      • Sleep Disorders
• Treatment
  • General Principles
  • Tic Suppression
    • Nonpharmacologic Treatments
    • Pharmacotherapy
    • Tier One Medications
    • Tier Two Medications
      • Other Medications and Botulinum Toxin
    • Surgical Approaches

109.7 Motor Stereotypies

• Definition
• Differentiating Stereotypies from Other Disorders
• Pathophysiology of Motor stereotypies
• Classification of Motor Stereotypies
  • Primary
    • Common Stereotypies
    • Head-Nodding Stereotypies
    • Complex Hand and Arm Movement Stereotypies
  • Secondary
    • Associated with Autism and Mental Retardation
    • Rett Syndrome
    • Associated with Sensory Deprivation
    • Associated with Inborn Errors of Metabolism/Genetic
    • Drug-Induced
    • Associated with Psychiatric Disorders
• Treatment

109.8 Paroxysmal Dyskinesias

• Paroxysmal Kinesigenic Dyskinesia
• Paroxysmal Nonkinesigenic Dyskinesia
• Paroxysmal Exertion-induced Dyskinesia
• Paroxysmal Hypnogenic Dyskinesia

109.9 Chorea, Athetosis, and Ballism

• Definitions of Chorea, Athetosis, and Ballism
• Clinical Characteristics-Phenomenology of Chorea, Athetosis, and Ballism in Children
  • Chorea
    • History
    • Examination
  • Ballism
  • Athetosis
• Neuroanatomy of Chorea
• Neurophysiology of Chorea
• Localization and Pathophysiology
• Physiologic Chorea
  • Chorea in Infancy
  • Chorea Minor
• Primary Choreas
  • Benign Hereditary Chorea
  • Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress-Allelic to Benign Hereditary Chorea
• Secondary (Acquired) Choreas
  • Choreas Occurring in Immunologic/Autoimmune Disease
  • Sydenham’s Chorea
  • Chorea in Primary Antiphospholipid Antibody Syndrome and Systemic Lupus Erythematosus
  • Vascular/Hypoxic Ischemic
    • “Postpump Chorea”-Chorea after Neonatal and Infant Cardiac Surgery
  • Dyskinetic/Choreoathetoid Cerebral Palsy
  • Kernicterus/Chronic Bilirubin Encephalopathy
  • Hyperglycemia/Diabetes-Associated Subacute Hemichorea or Hemiballism
• Multisystem and Genetic Diseases Where Chorea is Prominent
  • Huntington’s Disease in Late Teens
  • Infantile Bilateral Striatal Necrosis
• Treatment of Chorea

109.10 Dystonia

• Introduction and Definition
• Clinical Characteristics of Dystonia
• Localization and Pathophysiology
• Etiologies
  • Early-Onset Primary (Generalized) Torsion Dystonia (DYT1)
  • Other Early-Onset Primary Dystonias (DYT2; DYT4)
  • Dopa-Responsive Dystonia (DYT5)
  • Adolescent-Onset Mixed-Type
  • Dystonia (DYT6)
  • Myoclonus Dystonia Syndrome (DYT11)
  • Rapid-Onset Dystonia-Parkinsonism (DYT12)
  • Early-Onset Multifocal/Segmental Dystonia (DYT13)
  • Early-Onset Dystonia-Parkinsonism (DYT16)
  • Dystonic Storm (Status Dystonicus)

109.11 Myoclonus

• Definition of Myoclonus
• Phenomenology of Myoclonus in children
• Neurophysiology of Myoclonus
• Localization and Pathophysiology
• Physiologic Myoclonus-Myoclonus in Certain Settings, in Otherwise Healthy Individuals
• Physiologic and Benign Forms of Myoclonus
• Hemifacial spasm
• Primary Myoclonic Disorders
  • Essential Myoclonus
  • Myoclonus-Dystonia (DYT11)
  • Benign Myoclonus of Early Infancy
• Secondary Myoclonus
  • Opsoclonus Myoclonus (Ataxia) Syndrome
  • Postanoxic Myoclonus
  • Epilepsia Partialis Continua, Rasmussen’s Encephalitis, and Myoclonia Continua
• Epileptic Myoclonus without Encephalopathy
  • Juvenile Myoclonic Epilepsy
  • Benign Familial Myoclonic Epilepsy
  • Myoclonia with Childhood Absence Epilepsies
• Progressive Myoclonic Epilepsies
  • Mitochondrial Myopathies-Myoclonus Epilepsy and Ragged Red Fibers (MERRF)
  • Unverricht-Lundborg Disease
  • Lafora Disease
  • Neuronal Ceroid Lipofuscinoses
  • Sialidoses
  • Angelman Syndrome
• Startle Syndromes
  • Hereditary Hyperekplexias
  • Symptomatic Startle Disorders
  • Startle Epilepsies
  • Neuropsychiatric Startle Syndromes
• Clinical Differentiation of Myoclonus from Other Movement Disorders

109.12 Tremor

• Definition of Tremor
• Clinical Characteristics-Phenomenology of Tremor in Children
• Clinical Differentiation from Other Movement Disorders, and Some Special Types of Tremor
• Localization and Pathophysiology
• Primary Tremors
  • Enhanced Physiologic Tremor
  • Intermittent Tremor in the Young Child
  • Intermittent Tremor in the Adolescent
  • Essential Tremor
• Symptomatic Tremors
• Approach to Diagnosis and Management

109.13 Ataxia

• Definition of Ataxia
• Clinical Characteristics-Phenomenology of Ataxia in Children
• Localization and Pathophysiology
• Diseases and Disorders
  • Nonprogressive Ataxia I: The Uncoordinated Child
  • Nonprogressive Ataxia II: Ataxia Associated with Congenital Cerebellar Malformations
  • Acute Ataxias
  • Subacute Ataxias
  • Acute Recurrent Ataxias
  • Metabolic Ataxias-Acute Intermittent
    • Episodic Ataxia Type 1 (EA1)
    • Episodic Ataxia Type 2 (EA2)
  • Chronic Progressive and Degenerative Ataxias
    • Autosomal Dominant Spinocerebellar Ataxias
      • Spinocerebellar Atrophy Type 1 (SCA1)
      • Spinocerebellar Atrophy Type 2 (SCA2)
      • Spinocerebellar Atrophy Type 3 (SCA3); also known as Machado-Joseph Disease
      • Spinocerebellar Atrophy Type 7 (SCA7)
      • Spinocerebellar Atrophy Type 13 (SCA13)
      • Autosomal Recessive Ataxias
        • Friedreich Ataxia
        • Ataxia Telangiectasia
        • Ataxia with Oculomotor Apraxias
        • Ataxia with Isolated Vitamin E Deficiency
        • Infantile-Onset Spinocerebellar Ataxia
        • Mitochondrial Recessive Ataxia Syndrome
        • Childhood Ataxia with Central Hypomyelination/Vanishing White Matter Disease
      • Metabolic Ataxias-Chronic Progressive
        • Refsum Disease (Heredopathia Atactica Polyneuritiformis)
        • Cerebrotendinous Xanthomatosis

109.14 Parkinsonism

• Clinical Features of Parkinsonism
• Pathophysiogy of Parkinsonism
  • Tremor
  • Bradykinesia
  • Akinesia
  • Rigidity
  • Postural Instability
• Etiology of Parkinsonism in Children
  • Juvenile Parkinson’s Disease
• Secondary Parkinsonism
  • Structural Lesions
  • Hereditary/Degenerative Diseases
    • Huntington’s Disease
    • Rett Syndrome
    • Neuronal Intranuclear Inclusion Disease
    • Pallido-Pyramidal Syndrome
    • Kufor-Rakeb Syndrome
  • Infectious and Postinfectious Diseases
  • Metabolic Diseases
    • Fahr Syndrome
  • Drug-induced Parkinsonism

109.15 Inherited Metabolic Disorders Associated with Extrapyramidal Symptoms

• Pediatric Neurotransmitter Diseases
• Tetrahydrobiopterin (BH4) Metabolism
• BH4 Defects with Hyperphenylalaninemia
  • Autosomal recessively inherited forms of GTPCH-1 deficiency (autosomal recessive, 14q22.1-22.2)
  • 6-PTS deficiency (autosomal recessive,locus 11q22.3-23.3)
  • DHPR deficiency (autosomal recessive, locus 4p15.31)
• BH4 Defects without Hyperphenylalaninemia
  • Dopa-responsive dystonia (DRD)
  • DHPR deficiency without hyperphenylalaninemia
  • Sepiapterin reductase (SPR) deficiency (autosomal recessive, locus 2p14-p12)
• Primary Defects of Monoamine Biosynthesis
  • Tyrosine Hydroxylase Deficiency (Autosomal Recessive, Locus 11p15.5)
  • Aromatic l-Amino Acid Decarboxylase (ALAAD or AADC) Deficiency (Autosomal Recessive, Locus 7p12.1-12.3)
• Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Acidurias, Autosomal Recessive, Locus 6p32)
• Mineral Accumulation
  • Wilson’s Disease (Hepatolenticular Degeneration) (Autosomal Recessive, Locus 13q14.3)
  • Aceruloplasminemia (Autosomal Recessive Disorder, Localized to Chromosome 3)
  • Neurodegeneration with Brain Iron Accumulation (NBIA)
  • Pantothenate Kinase–Associated Neurodegeneration (PKAN)
    • HARP syndrome
  • Neuroferritinopathy
  • Infantile Neuroaxonal Dystrophy
• Lysosomal Disorders
  • Neuronal Storage Diseases
    • GM 1 gangliosidoses
    • GM2 gangliosidoses
  • Niemann-Pick Diseases
  • Gaucher Disease
  • Neuronal Ceroid Lipofuscinoses
    • Infantile NCL (INCL, Haltia-Santavuori Disease)
    • Late-Infantile (LINCL, Jansky-Bielschowsky Disease)
    • Juvenile (JNCL, Batten Spielmeyer-Vogt-Sjögren disease)
  • Cerebral folate deficiency
• White Matter (Dysmyelinating) Disorders
• Amino Acid Disorders
  • Homocystinuria
  • Hartnup Disease
  • Maple Syrup Urine Disease
  • Phenylketonuria
• Organic Acid Disorders
  • Disorders of Lysine Catabolism
    • Glutaric Aciduria Type 1 (Autosomal Recessive)
  • Branched-Chain Organic Acidurias
    • Methylmalonic Acidemia (Autosomal Recessive)
    • Propionic Acidemia (Autosomal Recessive)
    • 3-Methylglutaconic Aciduria
    • Methylhydroxybutyryl-CoA Dehydrogenase
    • Methylacetoacetyl-CoA or Acetoacetyl-CoA Thiolase (β-Ketothiolase) Deficiency
  • Other Organic Acidurias
    • l-2-Hydroxyglutaric Aciduria
    • D-2-Hydroxyglutaric Acidemia
• Glycolysis, Pyruvate Metabolism, and Tricarboxylic Acid Cycle Disorders
  • Triosephosphate Isomerase Deficiency
  • Pyruvate Carboxylase Deficiency
  • Pyruvate Dehydrogenase Complex Deficiency
  • 2-Ketoglutarate Dehydrogenase Deficiency
  • Fumarase (Fumarate Hydratase) Deficiency
• Mitochondrial Disorders
  • Leigh Syndrome
  • Other Mitochondrial Syndromes
  • Leber Hereditary Optic Neuropathy Plus Dystonia
  • Mohr-Tranebjaerg Syndrome
• Disorders of Purine Metabolism
  • Lesch-Nyhan Disease
  • Adenylosuccinate Lyase Deficiency
  • Phosphoribosylpyrophosphate Synthase Superactivity
  • Phosphoribosylpyrophosphate Synthase Deficiency
• Disorders of Creatine Metabolism
  • Guanidinoacetate Methyltransferase Deficiency (Creatine Deficiency Syndrome)
  • Other Creatine Deficiency Syndromes
• Cofactor Disorders
  • Molybdenum Cofactor (Sulfite Oxidase) Deficiency
• Leukoencephalopathies
  • Pelizaeus-Merzbacher Disease
  • Aicardi-Goutières Syndrome
  • Canavan, van Bogaert, Bertrand Disease
• Glucose Transport Defect (GLUT1 Deficiency)
• Neuroacanthocytosis
  • McLeod Syndrome
  • Bassen-Kornzweig Syndrome
• Congenital Disorders of Glycosylation (Formerly Named Carbohydrate-Deficient Glycoprotein Syndrome)

109.16 Movements That Occur in Sleep

• Overview of Sleep Physiology
• Classification of Movements in Sleep
• Sleep-related myoclonic disorders
  • Hypnic Jerks (Sleep Starts; Hypnagogic Jerks)
  • Benign Neonatal Sleep Myoclonus
  • Propriospinal Myoclonus
  • Excessive Fragmentary Myoclonus in NREM Sleep
  • Idiopathic Myoclonus in the Oromandibular Region during Sleep (Nocturnal Faciomandibular Myoclonus)
  • Narcolepsy
• Restless Legs Syndrome
• Periodic Limb Movements of Sleep
• Paroxysmal Hypnogenic Dyskinesia
• (Nocturnal Paroxysmal Dystonia)
• REM Sleep Disorders (Second Half of Night)
  • Nightmares (Dream Anxiety Attacks)
  • REM Sleep Behavioral Disorder (RBD)
• Movements associated with Parasomnias
  • Disorders of Arousal
    • Sleepwalking (Somnambulism)
    • Sleep Terrors (Night Terrors, Pavor Nocturnus)
    • Confusional Arousals
  • Sleep-Wake Transition Disorders
  • Rhythmic Movement Disorders
• Hyperkinetic Movement Disorders That Are Present during the Daytime and Persist during Sleep
• Seizures In and Around the Time of sleep
• Sleep Bruxism (Nocturnal Tooth Grinding)

109.17 Psychogenic Movement Disorders

• Clinical Features of Psychogenic Movement Disorders
• Pathophysiology
• Diagnostic Criteria for Psychogenic Movement Disorders
  • Documented PMD
  • Clinically Established PMD
  • Probable PMD
  • Possible PMD
• Aids in Diagnosing Psychogenic Movement Disorders
• Specific Movement Disorder Types in Psychogenic Movement Disorders
  • Tremor
  • Dystonia
  • Myoclonus
• Treatment and Outcome

109.18 Drug-Induced Movement Disorders in Children

• Phenomenology of Drug-Induced Movement Disorders in Children
• DIMDs Associated with Dopamine Receptor Blockade: Typical Antipsychotics, Atypical Antipsychotics
  • Neuroleptic Malignant Syndrome
• Drug-Induced Movement Disorders
  • DIMDs Associated with ADHD Treatment
  • DIMDs Associated with Other Medications
    • Serotonin Reuptake Inhibitors
    • Antiseizure Medications
• DIMDs Associated with Chemotherapeutic Medications