Movement disorders Flashcards
Parkinson’s
Pathophysiology:
- is usually idiopathic
- can be caused by drugs, toxic substances, etc. (MPTP)
- can occur on familial basis 2/2 mutations in alpha-synuclein gene (AD)
- mutations in parkin gene cause early onset, AR disease
- loss of pigmentation and cells in substantia nigra –> dopamine depletion
- Lewy bodies
Clinical:
- rest tremor
- rigidity +/- cogwheeling
- hypokinesia with hypomimia and hypophonia
- magnetic gait
- depression and visual hallucinations are frequent (me: diffuse lewy body disease?)
- postural hypotension
Dx/Rx:
- Levodopa/carbidopa
side effects: n/v, hypotension, dyskinesia, confusion
- clozapine may relieve confusion: monitor leukocyte count
Shy-Drager
Pathophysiology:
- degenerative disorder characterized by parkinsonian features, autonomic insufficiency, and signs of widespread neurologic involvement
Clinical:
- postural hypotension
- pyramidal or LMN signs
- cerebellar deficit
Dx/Rx:
-midodrine for postural hypotension
Progressive Supranuclear Palsy
Pathophysiology:
- M>W, age of onset 45-75
- tauopathy that produces neuronal degeneration with neurofibrillary tangles
- decreased dopamine, homovanillic acid in caudate and putamen
Clinical:
- gait disturbance
- supranuclear ophthalmoplegia: failure of voluntary vertical gaze
- pseudobulbar palsy: facial weakness, dysarthria, dysphagia, exaggerated and inappropriate emotional responses
- axial dystonia
- limb rigidity
Dx/Rx:
- dopaminergics for parkinsonian features
- anticholinergics
Corticobasal degeneration
Pathophysiology:
- rare, nonfamilial degenerative disorder
- intracellular filamentous deposits containing tau proteins
Clinical:
- bradykinesia, rigidity
- apraxia and clumsiness
- aphasia, acalculia, cortical sensory deficits, alien limb, dysphagia, dystonia
- cognitive decline and behavioral changes
Dx/Rx:
-supportive care
Huntington’s disease
Pathophysiology:
- hereditary d/o characterized by gradual onset of chorea and dementia
- onset 30-50
- autosomal dominant mutation in huntingtin gene with complete penetrance
- anticipation with paternal descent
- 2/2 CAG trinucleotide repeat
Clinical:
- dementia: irritability, moodiness, antisocial behavior
- chorea
Dx/Rx:
- dopamine D2 blockers (haloperidol)
Syndenham chorea
Pathophysiology:
- affects children and adolescents s/p group A hemolytic strep infection
- prob 2/2 arteritis
- appears 2-3 months after rheumatic fever or polyarthritis
- may recur in pregnancy or with OCPs
Clinical:
- abnormal choreiform movements
- irritability
- OCD symptoms
- emotional lability
Dx/Rx:
- rest
- antibiotic prophylaxis
- IM penicillin
Idiopathic torsion dystonia
Pathophysiology:
- may be inherited as AD, AR, or XLR
- trinucleotide gag deletion on DYT1 that encodes torsin A, an ATP binding protein
Clinical:
- abnormal movement exacerbated by voluntary activity
- torticollis, blepharospasm, oromandibular dystonia
Dx/Rx:
- botulinum toxin
- if responsive to levodopa see below
- otherwise, anticholinergics, diazepam, tetrabenazine
Dopa-responsive dystonia
Pathophysiology:
- AD with complete penetrance due to 14q mutation vs. AR 2/2 mutation on tyrosine hydroxylase gene
- symptoms o/s in childhood; F>M
Clinical:
- dystonia +/- bradykinesia, rigidity
- diurnal worsening of symptoms is common
Dx/Rx:
-remarkable improvement with dystonia (dopamine?)
Wilson’s disease
Pathophysiology:
- AR; caused by multiple genes
- decreased binding of Cu to ceruloplasmin
- age of onset 11-19
- involves caudate, putamen, cerebellum
Clinical:
- Kayser-Fleischer rings
- hepatic cirrhosis
- involves tremor, choreoform movements, rigidity, dysarthria, dysphagia, dementia +/- psychosis
- decreased serum Cu, serum ceruloplasmin
Dx/Rx:
- penicilliamine
- dx: increased 24 hour urinary Cu
Tardive dyskinesia
Pathophysiology:
- s/p long term rx with antipsychotics (dopamine receptor antagonists)
- increased risk with increased age
- may worsen during drug holidays
Clinical:
- abnormal choreoathetoid movements
- face and mouth more prominent in adults; limbs in children
Dx/Rx:
- d/c offending agent
NMS = neuroleptic malignant syndrome
Pathophysiology:
- complication of antipsychotic rx
- often haloperidol
- sx develop over 1-3 days
Clinical:
- rigidity, fever, AMS
- autonomic dysfunction
- resembles malignant hyperthermia
Dx/Rx:
- d/c offending agent
Tourette’s
Pathophysiology:
- sx begin F
Clinical:
- motor tics precede vocal tics
- OCD/ADHD common comorbidities
Dx/Rx:
- clonidine (reduces NE activity in locus ceruleus)
PANDAS
- pediatric autoimmune neurologic disorders associated with streptococcal infection
- development of exacerbation of tics, OCD, or both following a group A beta-hemolytic strep infex
