Case Files Flashcards
What is the next diagnostic step when essential tremor is suspected?
MRI of brain and spine
What are the suggested therapies for essential tremor?
Primidone, Propranolol
What part of the brain shows increased activity on PET scan in people with essential tremor?
The thalamus
The tremors of what condition can be mistaken for essential tremor?
Hyperthyroidism
When are botox injections indicated in the treatment of essential tremor?
Tremors of the head and voice
What is the next diagnostic step when Huntington’s is suspected?
Genetic counseling for HD;
ANA, electrolytes, r/o illicit drugs or poisoning, glucose level, creatnine level, HIV test, RPR, TSH level, B12 level;
MRI scan
What is the pathology behind HD?
Trinucleotide CAG repeats in huntingtin gene, chromosome 4;
>40 - always HD
26-39 - sometimes HD
What is athetosis?
Twisting and writhing movements associated with chorea
What is dystonia?
Sustained muscle contractions cause twisting and repetitive movements or abnormal postures
What is tardive dyskinesia?
Neurologic disorder caused by the long term and/or high dose use of dopamine antagonists, usually antipsychotics and among them, especially the classic antipsychotics
What other signs and symptoms are associated with HD?
Depression, anxiety, executive function impairment, subcortical dementia, behavioral disinhibition
How does HD present in children?
The Westphal variant, about 5% of HD, presents in children with Parkinsonian like movements, ie bradykinesia and rigidity
HD involves degeneration of what parts of the brain?
Head of the caudate nucleus and putamen
When generalized dystonia is suspected, what is the next diagnostic step?
MRI of the brain
Therapy is deep brain stimulation of the globus pallidus and pars interna
What is dystonia?
Sustained muscle contractions that cause twisting and repetitive movements or abnormal postures
What is myoclonus?
Sudden, involuntary jerking of a muscle or group of muscles
What IS opisthotonos?
Great rigid spasm of the body with the back fully arched and heels and head bent back
Generalized dystonia tends to begin when?
In childhood;
DYT-1;
Large phenotypic variability
What is the pharmacologic therapy for dystonia?
levodopa;
central antimuscarinic agents ie trihexyphenidryl;
baclofen;
benzodiazepines
What can be administered to combat an acute dystonic reaction caused by haloperidol?
Diphenhydramine (25-50 mg IV)
What is the inheritance pattern of DYT-1?
AD
What is the next diagnostic step when Parkinson’s is suspected?
MRI to r/o other causes of asymmetric tremor etc.
What are the main symptoms of PD?
Tremor at rest;
Hypokinesia;
Rigidity;
Postural instability
What are the signs of PD on pathology?
Loss of pigment in the substantia nigra;
Eosiniphilic inclusion bodies (Lewy bodies) in substantia nigra
