Movement disorders-Aversano Flashcards
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
What are some treatment options for tardive dyskinesia?
- early detection of abnormal movements
- Step One: Stop offending medication! –> Sx will worsen initially for 2-6 weeks
- Irreversible in 30-50%
-Rx: Reserpine or Tetrabenazine
What is myoclonus?
- Rapid, shock-like, arrhythmic (usually), and often repetitive involuntary movements
- Classified by location (focal, multifocal, or generalized) and by etiology
What are the 3 dopamine agonists used to treat PD?
Pramipexole, Ropinirole and Rotigotine
What is the NMDA antagonist used in the treatment of PD?
Amantadine
releases the stored dopamine in the brain
What are the lab findings consistent with Wilson’s Disease? What is the most definitive test?
- Low serum ceruloplasmin (5-20% are normal)
- Elevated 24 hour urine copper excretion
*Liver biopsy: Most definitive test
