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Movement Disorders > Movement Disorders > Flashcards

Movement Disorders Flashcards

1
Q

Sudden, rapid, recurrent, non-rhythmic, stereotyped movements.
At least one motor and one phonic tic.
Onset before age 18 and persists >1 year.
Pathophysiology: Dopaminergic hyperstimulation of the Ventral Striatum & Limbic System.
Presentation: Coprolalia - Involuntary obscene speech.

A

Tourette’s Syndrome

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2
Q

Treatment of Tourette’s Syndrome?

A

Antidopaminergic Agents: Haloperidol, Pimozide
Atypical Antipsychotics: Fluphenazine
Clonidine, Guanfacine, Tetrabenazine

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3
Q

Copper-transporting P-type ATPasae (ATP7B) on chromosome 13.
Tremor: High amplitude proximal wing-beating
Characteristic grin with drooling

A

Wilson’s Disease

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4
Q

Double Panda Sign
Increased T2 signal in the caudate and putamen + midbrain, thalamus

A

Wilson’s Disease

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5
Q

Trinucleotide repeat CAG on chromosome 4
Pathophysiology: Neuronal degeneration in the striatum, substantia nigra, globus pallidus
MRI Brain: Caudate, Putamen atrophy

A

Huntington Disease

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6
Q

Motor Impersistence: Inability to sustain tongue protrusion
Impaired saccades and pursuits
Insuppressible head movements during eye movements

A

Huntington’s Diseae

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7
Q

Involuntary, rapid, abrupt, irregular movements that flow from one body part to another.
May result in dance-like gait

A

Chorea

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8
Q

Autoimmune disorder manifesting with chorea, bilateral and asymmetric.
Result of Group A Streptococcus infection..
+Antistreptolysin Antibodies
+Antibasal Ganglia Antibodies

A

Syndenham’s Chorea

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9
Q

Neuroacanthocytosis

A

Mixed movement disorder (dystonia + chorea).
Labs: Acanthocytes (spiculated RBCs) on wet mount blood smear.

Hallmark: Self-mutilating behavior (Compulsive head banging, biting tongue). Smacking movements of the mouth. Feeding Dystonia (food propelled out of the mouth by the tongue).

Classifications:
1. Core Syndromes: McLeod Syndrome, Pantothenate-Kinase-Associated Degeneration (PKAN)
2. with Lipoprotein Disorders: Hemolysis, Myopathy, Cardiomyopathy, Areflexia, Chorea, elevated Cr Phosphokinase, Liver disease

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10
Q

Subtypes of Neuroacanthytosis

A

Chorea-Acanthocytosis
Mcleod’s Syndrome
Abetalipoproteinemia
Brain Iron Accumulation Syndromes

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11
Q

Autosomal Recessive Disorder resulting from mutations in the VPS13A Gene that encodes Chorein Protein.
Presentation: Orolingual dystonias (Tongue Protrusion Dystonia), Self-mutilating behavior

A

Chorea-Acanthocytosis

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12
Q

Neurodegenerative Autosomal Dominant resulting from expansion of trinucleotide repeat CAG on chromosome 12.
Common in people of Asia descend.
Clinical Features: Myoclonus, Choreoathetosis, Epilepsy, Dystonia, Tremor, Parkinsonism, Cognitive dysfunction

A

Dentatorubral-Pallidoluysian Atrophy

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13
Q

Hyperkinetic movement disorder characterized by forceful, flinging, high-amplitude choreiform movements

A

Ballism

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14
Q

Hemiballism can occur as a result of injury to…

A

Contralateral Subthalamic Nucleus

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15
Q

Treatment for Tardive Dyskinesias

A

Clonazepam, Tetrabenazine

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16
Q

Common in people with Japanese ancestry
Trinucleotide CAG repeat to Chromosome 13, producing Protein Atrophin-1
Presentation: Progressive Myoclonus Epilepsy, Ataxia, Choreoathetosis, Dementia
Path: Degeneration of the Dentate Nucleus, Red Nucleus, Globus Pallidus, STN

A

Dentatorubropallidoluysian Atrophy (DRPLA)

17
Q

Subtype of Neurodegeneration with Brain Iron Accumulation (NBIA Type 1)
Due to mutation of Pantothenate Kinase Gene (PANK2) in chromosome 20.
Path: Iron deposition and high concentration of Lipofuscin & Neuromelanin in the Substantia Nigra pars Reticulata & GPi.
Presentation: Progressive personality changes, Cognitive decline, Dysarthria, Motor difficulties, Spasticity, Choreoathetosis tremor, Retinitis Pigmentosa,
MRI: Decreased T2 signal in GP & Substantia Nigra (Eye of the Tiger)

A

Pantothenate Kinase-Associated Neurodegeneration (PKAN)

18
Q

Autosomal Dominant
Mutation in the Torsin A Gene - DYT1 Dystonia
Common in Ashkenazi Jewish descent
Presentation: Onset in childhood with action-induced limb dystonia -> Generalization
T/M: Anticholinergics, BZDs, DBS in GPi

A

Primary Generalized Dystonia
Oppenheim Dystonia
Dystonia Musculorum Deformans

19
Q

Mutation in the Sarcoglycan Protein

A

Myoclonus-Dystonia Syndrome
DYT11

20
Q

X-linked
Males of Filipino descent

A

Lubag Disease
DYT3 Dystonia

21
Q

THAP-1 Mutation

A

Adult-Onset Craniocervical Dystonia with Laryngeal involvement
DYT6

22
Q

Most common hereditary form of dopa-responsive dystonia
Autosomal dominant - Mutation in GTP cyclohydrolase I (GCHI) on chromosome 14
Common in females
Diurnal variation - worse in the PM & QHS
T/M: Low dose levodopa

A

DOPA-responsive Dystonia
Segawa’s Syndrome
DTY5

23
Q

Rhythmic palatal movements that may lead to audible clicks due to Eustachian tube contractions (clicking in the ear).
Essential (without cause) vs. Symptomatic (2/2 brainstem lesion - stroke or tumor).
Persists during sleep.
Path: Dysfunction in pathways connecting the Dentate nucleus, the Inferior Olive, Red Nucleus (Guillain-Mollaret Triangle)
MRI: Hypertrophy of the Inferior Olive

A

Palatal Myoclonus / Palatal Tremor

24
Q

Patterned, repetitive, stereotyped movements or vocalizations that occur in response to an external or internal stimulus.
Ex: Head nodding, Arm flapping, Body rocking, Head banging, Grunting, Humming, Moaning.
May occur in normal children during times of excitement/boredom, More common in children with developmental delay & autism.

A

Stereotypies

25
Q

Episodes of hyperkinetic abnormal movements (dystonia, chorea, choreoathetosis, ballism, dysarthria) with intervening normalcy.
Precipitated by sudden movement, startle, hyperventilation.
Familial (PRRT2 gene mutations) vs. Sporadic.
T/M: ASMs (Carbamazepine)

A

Paroxysmal Kinesigenic Dyskinesias (PKDs)

26
Q

Mutation in Myofibrillogenesis Regular (MR-1) gene.
Attacks may last several hours without clear precipitants.
Episodes aggravated by alcohol, caffeine, fatigue.
T/M: Not responsive to ASMs.

A

Paroxysmal Nonkinesigenic Dyskinesia (PNKD)

27
Q

Episodes of hyperkinetic abnormal movements triggered by prolonged exercise.
Mutation in Glucose-1 Transporter (GLUT-1) gene.

A

Paroxysmal Exertional Dyskinesias (PED)

28
Q

Part of the syndrome of autosomal dominant nocturnal frontal lobe epilepsy

A

Paroxysmal Hypnogenic Dyskenias

29
Q

Episodes of ataxia in association with facial twitching, myokymia, neuromyotonia.
Triggered by startle, movement, exercise.
Due to mutation in KCNA1 on chromosome 12
T/M: ASMs (Carbamezapine)

A

Episodic Ataxia Type I (EAI)

30
Q

Mutation in KCNA1 on chromosome 12

A

Episodic Ataxia Type I (EAI)

31
Q

Episodes of ataxia may be associated with brainstem symptoms (nystagmus, dysarthria).
Triggered by stress and alcohol.
Mutation in the calcium channel CACN1A4.
T/M: Acetazolamide

A

Episodic Ataxia Type II (EAII)

32
Q

Mutation in the calcium channel CACN1A4.

A

Episodic Ataxia Type II (EAII)

33
Q

Autosomal Dominant
Attacks ataxia with tinnitus and vertigo with attacks of myokymia in between.
T/M: Acetazolamide

A

Episodic Ataxia Type III (EAIII)

34
Q

Episodes of ataxia with ocular motion abnormalities.
Triggered by sudden head movements

A

Episodic Ataxia Type IV (EAIV)

35
Q

Exaggerated startle response.
Ex: Blinking, Flexion of the neck and trunk, abduction & flexion fo the arms - or - prolonged tonic startle spasms.
Familial forms result from mutations in the Glycine receptor and presynaptic glycine transporter

A

Hyperekplexia

36
Q

Autosomal Dominant
CAG repeat = Toxic gain of function = Misfolded protein product and aggregation.
Presents in 3rd-5th decade of life
Progressive truncal + limb ataxia, spasticity, UMN findings, CN abnormalities, Neuropathy.
MRI Brain: Cerebellar Atrophy

A

Spinocerebellar Ataxias (SCAs)

37
Q

Autosomal Recessive
CAG repeat on gene Ataxin 3 on chromosome 14
Truncal/Limb Ataxia, Cerebellar signs, Facial/Tongue Atrophy, Fasciculations, Bulbar symptoms

A

SCA-3
Machado-Joseph Disease

38
Q

Halo Sign

A

Hyperintense lesion on T1 in the cerebral peduncles seen in Beta-Propeller Protein-associated Neurodegeneration

39
Q

Eye of the Tiger

A

Hyperintensity surrounded by hypointensity in the basal ganglia seen in PKAN

Movement Disorders (3 decks)

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