ICNApedia - Movement Disorders

Details: ICNA; ICNTN; Published: 10 November 2020; Hits: 1715

109. 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