Movement D/O and other Paroxysmal Events NOS Flashcards
Benign Paroxysmal Vertigo
- What does it look like?
- Onset and natural history
- Family history note
- Diagnostic test
- Treatment
- Description
- like PPV, but not always positional
- Abrupt episodes of unsteadiness / ataxia lasting 1-2 minutes
- Appears startled / frighteneed, may run to parent
- Assocaited rotary nystagmus, nausea, vomiting, pallor
- Consciousness always preserved
- Onset
- Commonly before age 4, but remit by age 11 (or become migraines)
- Family history of migraine is classic
- Diagnosis: Dix Hallpike test
- Treatment: Epley maneuver
Treatment for Tics (5)
- A2 - adrenergic agonists
- Clonidine
- Guanfacine
- Neuroleptics
- Risperidone
- Pimozide
- Habit reversal training
Sydenham’s Chorea
- Cause
- Typical disease association
- Treatment
- Category 1 (1)
- Category 2 (2)
- Category 3 (3)
- Category 4 (3)
- Prognosis
- Group A beta-hemolytic streptococci
- 20-30% of patients with acute rheumatic fever
- Treatment
- Clonidine
- ASM
- VPA
- CBZ
- Neuroleptics
- Risperidone
- haloperidol
- pimozide
- Immunosuppresssion
- Steroids
- IVIG
- Plasmapharesis
- 50% recover after 2-6 months but some persist for >2 years
Wilson’s Disease
- Mutation / chromosome / inheritance
- Symptoms (3)
- Diagnostic findings (7)
- Treatment (7)
- ATP7B (chromosome 13), autosomal recessive
- Symptoms
- Liver disease
- Neurologic symptoms***
- Renal Tubular Acidosis
- Diagnostic tests
- Abnormal LFT’s
- Low ceruloplasmin
- Low copper
- Neuroimaging (Bilateral T2 hyperintensities of BG and Thalami)
- slit lamp exam > Kayser-Fleisher rings
- Liver biopsy
- Treatment
- Diet: avoid mushrooms, nuts, broccoli, chocolate, dried fruit, liver, and shellfish
- Zinc
- Chelation
- Penicillamine
- trientine hydrochloride
- Tetrahiomolybate
- Liver transplant
Paroxysmal Kinesigenic Choreoathetosis
- Inheritance
- Genes (4)
- Characterization of movements
- Treatment (2)
- Prognosis
- Autosomal Dominant
- Genes
- 16p11.2-q12.1
- DYT8 2q35
- DYT9 1p
- 16p12-q12 ICCA
- No LoC, tiggered upon initiation of movement
- Treatment
- Carbamazepine
- Benzos
- Prognosis
- Usually goes away by 18
Hallervorden Spatz
- AKA
- pathogenesis
- Mutation / inheritance
- Onset
- A
- B
- C
- Finding
- Category A (3)
- Category B (2)
- Prognosis
Hallervorden-Spatz
- Neurodegeneration with brain iron accumulation (NBIA1)
- Mutation in pantothenate kinase gene (PANK2) (20p13-p12.3) AR
- Onset
- Classic: 1st decade, rapid progresssion
- Atypical: 2nd decade, slow progression
- Intermiediate:
- 1st decade with slow progression
- 2nd decade with rapid progression
- Findings
- Eye:
- Pigmentary Retinopathy
- retinal degeneration
- optic atrophy
- Neurologic
- Facial grimacing / dysphagia
- spasticity
- Eye:
- Death 20 years after onset
DYT1
- Mutation and inheritance
- Onset
- Presentation
- Epidemiology note
- Treatment
- 9q34 - AD
- Onset often mid-to-late childhood but occasionally in adulthood
- Wide phenotypic variability and penetrance
- High incidence of ashkenazi Jews
- Treatment: symptomatic (including DBS
What does this show?
Caudate and putamen atrophy
(juvenile huntington’s disease)
4 year old comes in with 2-3 Hz yes-no head movements.
Before diagnosis motor tics, what should you exclude?
Dilation of third ventricle
“Bobble-headed-doll syndrome”
Patient with parkinson’s disease Complains of nausea after starting Sinimet
What can you do and why?
Increase amount of carbidopa (levodopa in periphery can cause nausea)
pregnant woman develops chreaform movements of arms and legs.
What two treatments can be done for this?
Plasma exchange
1st generation antipsychotics (haloperidol is preferred)
Mechanism of action: Carbidopa
Inhibits dopa decarboxylase (prevents peripheral conversion of Levodopa to Carbidopa)
Friedrich’s ataxia Menmonic + chromosome
Mnemonic: Fred told his wife to PUSH, then the baby went “GAA”
GAA repeat in FXN (frataxin) gene on 9q13
- *P**es cavus, Loss of Proprioception
- *U**pgoing toes
- *S**coliosis, Speech problems (dysarthria)
- *H**yporeflexia
- *G**ait
- *A**taxia
- *A**rrythmias
Region damaged to cause Hemiballismus
Contralateral Subthalamic nucleus
Patient presents with exaggerated startle response, nocturnal myoclonus, and stimulus episodes of apnea
what is this called?
what amino acid is typically involved?
what is a possible way to abort these episodes?
Hyperekplexia
Glycine
can try to treat by flexing child’s neck or hips
Hypokalemic periodic paralysis:
Preventative Dietary changes and Medication
Low salt, low carbohydrate diet
Dichlorphenamide
Antidepressant preferred for RLS and why?
Buproprion, because it doesn’t exacerbate or precipitate RLS
How to differentiate between Dopa-responsive dystonia and Paroxysmal exertional dyskinesia
DRD = positive response to low-dose Dlevodopa
PED = TRIGGERED by exercise, also with absence seizures and complex partial seizures
Difference between Carbidopa and Entacapone
Carbidopa = Dopa decarboxylase inhitor
Entacapone = COMPT inhibitor
Patient presents with jerking movements after being treated for rheumatic fever
How do you treat?
IM penicillin (or 10 days oral penicillin) + haloperidol
Patient with wilsons disease treated with penicillamine develops neurologic deterioration and contractures. What do you do?
Switch to trientine hydrochloride
MRI Finding in CJD
increased signal in basal ganglia
19 year old man presents with bradykinesia, dystonia, and rigidity, but also to a lesser extent chroeoform movements.
What genetic condition do you suspect?
Westphal variant of Huntington’s
Patient presents with parkinsonian features and prominent nasal speech
What regions of the brain are affected (5)
What type of disorder is this?
- Atrophy of:
- midbrain
- pallidum
- thalamus
- Subthalamic nucleus
- Mild symmtric frontal atrophy as well
- What type of disorder?
- Tauopathy
Histopathologic features of Progressive supranuclear palsy (supercategory and 3 components)
Glial tau pathology:
- tufted astrocytes
- Thorn shaped astrocytes
- Oligodendroglial coiled bodies
Tests to order before initiating Cabergoline (2) and why?
CXR and Echo, due to retroperitoneal, pulmonary, and cardiac fibrosis
20 year old male presents with external ophthalmoplegia, ataxia, as well as spasticity, dystonia, athetosis, and dysarthria.
His father and grandmother died of a similar condition.
What disorder to you expect?
What is the mutation?
What exam feature can you use to confirm?
- Machado-Josheph disease type 1 (aka spinocerebellar ataxia type 1)
- Trinucleotide repeat of ATXN3 gene (chromosome 4)
- Look for tongue fasciculations
50 year old man comes in for second opinion on TMJ. You note frequent blinking and jaw tightening.
What is this and what could you offer as treatment?
Meige syndrome (oromandibular dystonia + blepharospasm)
No cure, but botox can help
Genes associated with Restless leg syndrome
“I’m restless about boards. Beat-the-boards meissed somet hings. I want a map to make sure i’m prepaired”
BTBD9
MEIS1
PTPRD
MAP2K5/LBXCOR
