Movement Disorders Flashcards

Question

Chorea (Hyperkinetic Movement Disorder)

Answer 1

- random, involuntary, purposeless, irregular and non-patterned movements that seem to flow from one body part to another - often accompanied by motor impersistence (negative chorea): i.e. Stick your tongue out then it goes back in. Or Milkmaid's hand - dyskinesia is a form of chorea

Answer 2

``` Huntington's disease Sydenham' Chorea Chorea gravidarum SLE/antiphospholipid Neuroacanthocytosis Benign hereditary chorea Dentatorubropallidoluysian Atrophy (DRPLA) ```

Answer 3

Hx: onset was usually in middle age. Accompanied by personality changes (nervous excitement) and a cognitive decline (tendency to insanity). Very heritable condition from generation to generation Genetic Defect: HD gene mapped to Chromosome 4. It's a mutation of CAG-repeat expansion. CAG length correlates inversely with age of disease onset (higher CAG length=lower age of onset). CAG length is not necessarily correlated with disease severity or rate of progression of disease (anticipation from generation to generation can occur and usually when inherited from father) Epidemiology: World-Wide prevalence is 5-10 per 100,000. As low as 0.1 per 100,000 in Japan. 25,000 affected in US with 125,000 at risk Onset: mean age is 39 years but can range from 2-80 years Duration: mean survival is 19 years and typical range is 15-25 years

Answer 4

Movement abnormalities: chorea, motor impersistence, bradykinesia, dystonia, rigidity, oculomotor changes Psychiatric changes: depression, anxiety, mood swings, OCD Cognitive and intellectual changes Non-classic features: weight loss and sleep disturbance Eventually leads to dementia

Answer 5

Definition: younger than 20 y.o Inheritance: 80-90% paternal inheritance Clinical Manifestations: dystonia, bradykinesia, Parkinsonism

Answer 6

``` Education Genetic Counseling Psychosocial support Legal services Disability review support Lay support groups ``` Chorea: tetrabenazine (inhibits vesicular monoamine transporter (VMAT2)): it depletes dopamine in the synapse. Less likely to cause side effects than a dopamine blocker because you're not actually causing a blockade (good option without mood issues) Neuroleptic: Dopamine receptor blockers. Also helpful for psychosis Depression: SSRIs

Answer 7

-involuntary, sustained or spasmodic, repetitive, and patterned contractions of muscles, frequently causing twisting and other abnormal movements or postures -both agonist and antagonist muscles contract simultaneously (co-contraction) -commonly starts as action dystopia (not present at rest, but only when carrying out a voluntary action) ----usually the agonist and antagonist contract at the same time (causing twisting) ----these are task specific. Example is: writer's cramp. When they start to write they have issues ----Musicians can develop this Genetics: -The DYT classification includes inherited forms of dystonia that include: pure dystonia, dystonia with other movement disorders, paroxysmal dyskinesias -Common forms of hereditary dystopia include: DYT1-young onset, lower extremity, autosomal dominant, incomplete penetrate, torsinA mutation DYT11-myoclonus-dystonia, mutations predominantly in the epsilon sarcoglycan gene DYT5-dopa-responsive dystonia with tremor, parkinsonism, spasticity, diurnal variation, young onset Pathophysiology: -as a movement disorder, it was always thought to be a basal ganglion disorder (certainly common post-traumatic dystopia localizations are the thalamus or palladium) -it's now felt that primary dystopia is more of a neurodevelopmental circuit disorder involving cortico-striato-pallido-thalamo-cortical and cerebello-thalamo-cortical pathways -disorder of deficient inhibition (resulting in this hyperkinetic movement disorder) Normal inhibitor of motor pathways isn't happening

Answer 8

Torticollis: rotation of the head around the axis Laterocollis: tilting of the head from left to right Antero- or Retrocollis: neck is flexed downward or extended backward Important to figure out a head tremor because we want to know what muscles are involved. We treat with botulinum toxin

Answer 9

Childhood onset (and really any age) dystopia: give a trial of levodopa in case patient has a dopa-responsive dystonia Anti cholinergics: tolerated better in pediatric dystopia For dystonic tremor: nonspecific tremor reducers such as primidone, propranolol, gabapentin, clonazepam

Answer 10

Inhibits SNARE protein complex from delivering the vesicle Activity isn't permanent. Lasts about 3 months. Kicks in around 5-6 days

Answer 11

- Sudden, brief, shock-like involuntary movements - caused by muscle contractions (positive myoclonus) or inhibitions (negative myoclonus e.g. Asterixis-characterized by a sudden and violent loss of tone in the extensor muscles of the hand. The hand makes brief movements inward, resembling the beating of wings, when it's supposed to be motionless) Negative tremor is characterized by lack of muscle control (hepatic and renal issues). -physiologic myoclonus: most common is hypnic (like when you start to go to sleep) -cortical myoclonus: epileptic Back-averaging the EEG demonstrates time-locked cortical event preceding myoclonic jerk on EMG -essential myoclonus: most cases are hereditary, associated with dystopia, and now recognized as DYT11 with mutations in epsilon sarcoglycan

Answer 12

Key features: stereotyped, simple or complex Paroxysmal (spasm-like) urge to perform Release when performed Suppressive (but can "build-up" when suppressed, then let out in a "flurry" when socially acceptable) Can be motor or vocal

Answer 13

- Motor and vocal tics by age 18 - not due to another illness - no prolonged remission but fluctuates in severity - OCD, ADHD, learning disabilities - highly heritable, gene(s) unknown (Most of the time it's uncommon to have an adult onset tic disorder. Most of the time they improve with age. Go away around 16 or 17. Treatment, esp. in kids, is reassurance. Movements generally aren't disabling) Pathophysiology: -defective surround inhibition -set of striatal Neurons becomes active inappropriately, causes unwanted inhibition of the "brake" for adjacent output neurons, lets a competing motor pattern through (When you initiate a movement, other unwanted motor programs surrounding that are being inhibited. Here the inhibition isn't working and you have leakage) Genetics: - familial - autosomal dominant with incomplete penetrance suggested Epidemiology: - prevalence: as high as 4.2% and as low as 0.03% - different ascertainment methods - different clinical criteria - different study populations - a third of patients are not aware of their tics Tx: - alpha 2 adrenergic agonists (clonidine and guanfacine)-aren't great but have least amount of side effects - clonazepam - neuroleptics - tetrabenazine - botulinum toxin

Answer 14

- similar to tics but - ---usual onset before age 3 - ---association with autistic spectrum disorders, mental retardation - ---occur in certain emotional states (often happy, excited, overwhelmed, etc.) - ---they just sort of happen, usually occur in emotional states

Answer 15

- very large amplitude choreic movements of the proximal parts of the limbs, causing flinging or flailing body movements - most often unilateral (hemiballism) ``` Location of the lesion: -studies debate over subthalamic nucleus -extra-STN locations include: Putamen Caudate Globus Pallidus Thalamus Outside basal ganglia Cortex ``` ``` Causes: Vascular Metabolic Neoplastic Post-surgical Infectious Other Most common: stroke, hyperglycemia --really anything that causes a lesion in the right part of the basal ganglia ```

Answer 16

- involuntary, intermittent movements consisting of dystonia, chorea, athetosis, ballismus, or a combo of these - can be precipitated by sudden voluntary movement, exertion, sleep, stress, or can occur spontaneously Demirkian and Jankovic Classification: 1. Paroxysmal Kinesigenic Dyskinesia (PKD) onset induced by quick or rapid movement 2. paroxysmal non-kinesigenic dyskinesia (PKND) 3. Paroxysmal Exertion-induced dyskinesia (PED): develop symptoms after walking for a while maybe 4. Paroxysmal Hypnogenic Dyskinesias (PHD): during sleep - related to different problems with synapse transmission and transport issues

Answer 17

-associated, but very different conditions Periodic Leg Movements in Sleep: repetitive, stereotyped movements of the big toes, sometimes ankles, knees and hips during sleep Restless Leg Syndrome: sensory disturbances of the leg which are relieved by movement (Dopamine Agonists help) gabapentin and other anti-epileptics can be helpful too BOTH EFFECT SLEEP

Answer 18

- initially described as spontaneous and purposeless movements of the toes and less often the feet and proximal leg muscles - they can volitionally stopped, but soon return - the toes movements consist of flexion/extension, abduction/adduction, a "clawing and straightening: and "fanning and circular movements" of the toes - they were continuous but waxing and waning

Answer 19

- excessive startle in response to sudden unexpected stimuli - may be sporadic or familial - glycine receptor defect - hypertonia in infancy - head retraction reflex

Answer 20

Peripheral movement disorder caused by irritation of the 7th nerve -causes unilateral facial contractions Generally: for a focal issue we do botulinum toxin but we can use anti-epileptics

Answer 21

- inner, general restlessness, reduced or relieved by movement - complex and usually stereotyped movements (cross/uncross legs, rock in chair, pace, moan) - commonly a side effect of dopamine blockers

Answer 22

- slow, writhing, continuous involuntary movements - resembles "slow" chorea or moving dystonia - often seen in cerebral palsy - pseudoathetosis: distal athetoid movements of the fingers and toes due to loss of proprioception