Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Racp > Neurology > Flashcards

Neurology Flashcards

1
Q

What are the Sodium AED’s? (can’t use in sodium channelopathy)

A 
Phenytoin 
Lamotrigine 
Carbamazepine
Topiramate
Valproate
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Ataxic telangectasia pathogenesis

A

Autosomal recessive

ATM gene mutation on chromosome 11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Ataxic telangectasia vs Fredreich ataxia age of onset

A

2-3 yo vs adolescent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Ataxic telangectasia clinical features

A 
Gait trunk limb ataxia 
Sinopulmonary infection 
Oculomotor  apraxia and jerking
Radiation sensitivity 
Risk of lymphoma and  leukemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Ataxic telangectasia lab findings

A

High Afp

Low immunoglobulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Ataxic telangectasia prognosis

A

Wheelchair bound by 10

Median Survival 25

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Fredreich ataxia clinical features

A 
Trunk limb ataxia 
Dysarthria
Pes cavus
Absent reflexes
Diabetes 
Cardiomyopathy 
Scoliosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Fredreich ataxia prognosis

A

Wheelchair bound by 10 -25 years after diagnosis

Most common cause of death is cardiomyopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Management of tics or tourette

A

Behavioral therapy
Alpha agonist clonidine or guanfacine
Deep brain stimulation
Treat comorbid adhd and ocd

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Tourette syndrome

A

Both vocal and motor tics

More than 12 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Types of cerebral palsy

A 
Spastic 70%
Dyskinetic 
- choreoathetoid
- dystonic
Hypotonic
Mixed
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Early hand preference

A

Before 1year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Rett syndrome pathogenesis

A

X linked dominant

Mecp2 gene mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Rett syndrome clinical features

A 
Autistic features
Developmental regression 1.5 - 3 year old
Then stabilisation
Intellectual disability
Movement disorders
Seizure
Microcephaly
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Fredreich ataxia pathogenesis

A

Autosomal recessive
GAA expansion trinucleotide repeat
Cause silencing of Frataxin gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is dysmetria

A

Cannot judge distances

Cerebellar sign

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the primitive reflexes and their ages of onset/disappearance

A

Moro, grasp, rooting, stepping - birth to 4-6 mo
Gallant/trunk incurvation - birth to 4mo
Fencing - birth to 3mo

Parachute - 9mo to never
Babinski - birth to 12-18mo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What do primitive reflexes assess

A

Integrity of brainstem and basal ganglia
Should be symmetrical
Disappearance indicates normal maturation of descending inhibitory cerebral influences

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is sterognosis

A

Recognising an object in hand by sensation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is graphesthesia

A

Recognising a number written on hand

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How to test cortical areas of sensation

A

Stereognosis
Graphesthesia
Two point discrimination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What do fibrillations or fasciculations indicate

A

Denervation

Dysfunction of either anterior horn cell or peripheral nerve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Nerve conduction abnormality in demyelinating and axonal neuropathy

A

Demyelinating - reduced velocity

Axonal - reduced amplitude

24
Q

Ilae recommends treatment if risk of seizure recurrence is above

A

60%

25
Q

Recurrence risk after first unprovoked seizure

A

If generalised, normal EEG and exam 25%

Add 25% if

  • focal
  • either EEG or exam abnormal
  • add 50% of both abnormal
26
Q

Spasticity vs dystonia

A

Spasticity is velocity dependent resistance to movement

27
Q

What are the hepatic enzyme inducing AEDs (reduce effectivenes of contraceptive pill)

A

carbamazepine, oxcarbazepine, perampanel (at doses of 12 mg daily or more),

phenobarbitone, phenytoin, primidone and topiramate (at doses of 200 mg daily or more).

28
Q

Risk of major congenital malformation in babies born to mothers taking AED

A

4 to 6%, which is about twice the risk for babies born to mothers without epilepsy.

29
Q

Which gestation does teratogenicity occur due to exposure to AED

A

Prior to confirmation of conception

30
Q

What determines neurodevelopmental effects of AED on fetus

A

Probably depend on fetal drug exposure throughout the pregnancy

31
Q

At what dose of valproate is its risk if teratogenicity similar to other AEDs

A

600 to 800mg daily

32
Q

First line for symptomatic generalised idiopathic/genetic epilepsy

A

Valproate

33
Q

How do lamotrigine and valproate interact

A

Valproate reduces lamotrigine clearance

34
Q

What is the earliest sign of carbamazepine toxicity

A

Diplopia 30-60minutes after dose

35
Q

Types of Charcot Marie Tooth

A

Aka HMSN

1 demyelinating
2 axonal

36
Q

Clinical features of Guillain Barre

A

Can be axonal or demyelinating
10 days post mycoplasma or campylobacter
Symmetrical ascending weakness
Absent reflexes

No spinal tenderness

Can have numbness/paresthesia
Can have autonomic features
Preserved bladder and bowel

Csf elevated protein but no pleocytosis

37
Q

Guillain Barre - Miller Fisher variant

A

Ataxia
Ophthalmoplegia
Areflexia

38
Q

What is nusinersin and how does it work

A

Antisense oligonucleotide
Clinical phenotype of SMA is closely related to SMN 2 gene

Nusinersin alters SMN2 pre-RNA splicing so exon 7 is included
- increasing expression of functional SMN protein

39
Q

CIDP clinical features

A

Both proximal and distal weakness

Relapsing remitting

40
Q

CMT/HMSN clinical features

A 
Mostly motor, some sensory and autonomic
Some variants affect infants 
Pes cavus
Palpable nerves
Peroneal and tibial nerves earliest and most severely affected
41
Q

Myasthenia gravis cause

A

Antibodies block the Ach receptors at the neuromuscular junction
- no message received - no action potentials at muscle

42
Q

Pyridostigmine and neostigmine mechanism of action

A

Anticholinesterase inhibitor

  • Stops breakdown of Ach receptors by cholinesterase
  • maximise level and duration of neurotransmitter Ach
43
Q

Anticholinesterase inhibitor uses

A

Occur naturally in venoms
Nerve agents
Myasthenia gravis

44
Q

Types of myasthenic syndromes

A 
Congenital (gene mutation in neuromuscular jxn)
Transient neonatal (mum has myasthenia)
Juvenile (autoimmune; late infancy and childhood)
45
Q

Treatment of myasthenia

A

Anticholinesterase agents,
IVIG or plasmapheresis,
chronic immunosuppressive agents, and
thymectomy

Avoid exacerbating medications

patients with MuSK-positive disease are poorly responsive to anticholinesterase agents and thymectomy

46
Q

Different genetic mutations that differentiate Becker from Duchenne muscular dystrophy

A

Inframe (produce partially functional dystrophin)
vs
Frameshift, nonsense or premature translation stops

47
Q

Absence seizure <2yo

A

Glut 1 deficiency

48
Q

Low glucose in csf without pleocytosis

A

Glut1 deficiency

49
Q

Cervical plexus

A

C1-C4) – innervates the diaphragm, shoulders and neck

50
Q

Brachial plexus

A

(C6 – T1) – innervates the upper limbs

51
Q

Lumbosacral plexus

A

L2-S1) – innervates the lower extremities

52
Q

Foot drop

A

Cant invert- common peroneal palsy

Cant evert -L5 palsy

53
Q

Treatment of Rolandic

A

Carbamazepine may make it worse but can use SR, increase doses slowly

Mostly does not need treatment

Resolved by mid teens

54
Q

Rolandic associated with

A

Inattention

Learning difficulties

55
Q

Epilepsy resolved if

A

Seizure free for the last 10 years, with 5 being off AED

56
Q

Treatment of glut 1 deficiency

A

Ketogenic diet

Racp (21 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions