Movement disorders-Aversano Flashcards
(29 cards)
What are some features of Progressive Supranuclear Palsy?
- Onset—Elderly > 65
- Appear parkinsonian with early gait disturbance, falls, freezing
- Dystonias and axial rigidity
- Vertical gaze palsy > downward gaze
- *Wide eyed unblinking stare
- Emotional lability-pseudobulbar palsy
What are the atypical parkinsonian syndromes?
- Progressive Supranuclear Palsy (PSP)
- Corticobasal Degeneration
- Multiple System Atrophy
- Striatonigral Degeneration
- Shy-Drager Syndrome
- Olivopontocerebellar - Atrophy
What are some features of MSA (multiple system atrophy)?
-Parkinsonism plus:
- Autonomic dysfunction-(orthostatic hypotension)
- Dementia
- Cerebellar signs
- more progressive than parkinsons
What is dystonia?
Involuntary sustained muscle contractions producing twisting or squeezing movement and abnormal postures
What are some features of primary dystonia?
- DYT1=Early Onset Dystonia
- Autosomal Dominant
- Ashkenazi Jewish Families
- Most severe and common form of hereditary early onset dystonia
- Avg age at onset: 12 years, most before age 26
- *Initial Sx: Crural Dystonia often with foot involvement: Twisted and plantar flexed
- Progresses over 5 years to other areas
- 50% bedridden or W/C bound
- Stabilize, often improve slightly, but never remit
- Genetic testing available
What are some features of cranial dystonia?
-Meige Syndrome: Blepharospasm then oromandibular dystonia then lingual and pharyngeal dystonia
-more common in women.
severity fluctuated day to day and disappears with sleep
-blepharospasm: Eye irritation, photophobia, increased blinking may precede involuntary blinking, repetitive contractions, squinting, or sustained closing of the eye. 12% are functionally blind. worsened by sun, stress, fatigue and watching TV
What is Oromandibular dystonia?
- Jaw opening or closing is often accompanied by lingual protrusion
- Worsened by talking, chewing, swallowing
- Sensory tricks: Press on lips or teeth, tongue to palate, finger in mouth
- 20% eating is compromised
How is cervical dystonia (spasmodic torticollis) treated?
Botulinum toxin
What are some features of Writer’s cramp?
- focal dystonia
- Task-specific or action induced dystonia
- Age at onset varies from 20-70 years
- Handwriting becomes sloppy & illegible
- Jerking writing motion (forearm and wrist contractions); paper may tear
- Squeeze pen tightly, press down hard, fingers may splay from pen
- Pt’s often learn to change hands to write
- 25% become bilateral
- May be associated with Essential tremor
- Pianist’s and Violinist Palsy
- Dart-Thrower’s Palsy
- Golfer’s Palsy (Yips)–> Cannot putt because of the jerky motion
What does the progression of dopa responsive dystonia (DYT5) look like?
- Onset: Childhood or adolescence
- *video of 2 siblings that were completely fixed with Dopamine
- Females 4x’s greater than males
- Foot dystonia in childhood
- Parkinsonism in adults–> more with age
- Diurnal fluctuations
- Dystonic limb presentations are most common
- developmental delay
- spasticity (looks like cerebral palsy)
- **profound and sustained response to levodopa (<300 mg/day)
What are some causes of secondary dystonias?
- drugs: Dopamine Antagonists, Dopamine Agonists, Antidepressants, Antihistamines, Calcium Channel Blockers, Stimulants (Cocaine), Buspirone (Buspar)
- vascular disease: Basal Ganglia infarction, Basal Ganglia hemorrhage, Arteriovenous malformation
- neoplasms (brain tumor): basal ganglia glioma, metastatic neoplasm, c-spine tumor
- other: head trauma, anoxia, meningitis, AIDS, psych
What does the presence of a hemidystonia suggest?
A focal lesion such as a tumor, infarct or abscess in the basal ganglia (opposite side)
What should be ruled out in new-onset dystonia in a young patient?
Wilson Disease
What is the most common adult onset movement disorder?
essential tremor
What are some features of essential tremor?
- Postural (static) and kinetic (active) tremor
- Onset early 20’s and late adulthood
- Improves with ETOH consumption ~ 50%
- Familial 50-70% Autosomal dominant
What should be ruled out before diagnosing Essential Tremor?
hyperthyroidism
What is commonly used to treat ET?
Propanolol
Primidone
Botulinum Toxin
What are some features of Huntington disease?
- Widespread neuronal degeneration
- GABA and glutamic acid decarboxylase (GAD) levels are diminished in the Striatum and Globus Pallidus
- autosomal dominant
- Most common onset: 35-42 years
- Insidious onset: fidgety, clumsy, grimaces
- Rigidity and dystonia can appear late
- Semi-purposeful movements
- Dementia
- Psychiatric disturbance–> impaired judgement
- Live 10-30 years
- Atrophy of Caudate nucleus, Putamen, & Cerebral cortex
- chorea: excessive, spontaneous movements
-HTT gene is located on chromosome 4 with a CAG sequence repeat > 40 producing a protein designated as Huntingtin –> anticipation
What is the common treatment of HD?
- Amantadine 200-400mg/day
- Anticholinergics
- Coenzyme Q10 600mg per day
- Dopamine Receptor Antagonists
- Tetrabenazine- Dopamine Depletor 50-200mg/day
- Treat the psychosis
What are some features of Wilson’s disease?
- *Kayser-Fleischer ring in cornea–> Descemet’s membrane (slit lamp to evaluate)
- Hepatolenticular degeneration
- Disorder of copper metabolism
- Autosomal recessive
- Mutations on ATP7B gene on chromosome 13
- Onset: childhood ~ 20 years
- Incoordination of fine finger movement and handwriting is frequent early manifestation
- Resting tremor is also seen and can have rigidity, bradykinesia, gait difficulty and mimic PD
- Tremor can also be postural or kinetic. When severe it is “wing beating” at shoulders with flapping wrists
- “Vacuous or sardonic smile”–>Retraction of upper lip, mouth agape, upper teeth protrude
- 50% have psych symptoms
- Coomb negative hemolytic anemia
- Renal disease
- Liver biopsy: Most definitive test
What should be considered with any movement disorder of onset less than 40 yo?
Wilson’s disease!!
it is treatable!!
What is the treatment for Wilson’s Disease?
- D-penicillamine-chelating agent
- Trientine-chelating agent
- Zinc acetate
- Tetrathiomolybdate
What are some features of Tourette’s syndrome?
- Tics: ”repetitive, brief, rapid, purposeless, stereotyped movements
- autosomal dominant
- Tics can be motor or phonic and increase with stress/excitement and decrease with relaxation and concentration
- Eye blinks,head or limb jerks, shoulder shrugs—can be more complex
- Vocal: noises, sounds, sniffing, snorting, barking, throat clearing, grunting
- onset:3-8 yo–> 21 y o
- tics diminish in 20s.
- tics can be suppressed
What are some features of tardive dyskinesia?
- iatrogenic movement disorder related to treatment with dopamine receptor antagonists (neuroleptics and antiemetics)
- Choreiform motions of orofacial muscles (Oral Buccal Lingual chewing type motions, tongue movements)
- Risk increases with age (>40)
- commonly begins when dosage of neuroleptic is lowered or discontinued
