Neurology

Question 1

what is charcot marie tooth disease

Answer 1

genetic neuromuscular disorder affecting the peripheral nerves which leads to progressive weakness of extremities

Question 2

inheritance pattern of CMT

Answer 2

autosomal dominant

Question 3

clinical presentation of CMT

Answer 3

pes cavus
distal muscle wasting leading to inverted champagne bottle legs
foot drop
peripheral sensory loss
hammer toe

Question 4

investigations for CMT

Answer 4

nerve conduction studies showing reduced/ absent sensory responses

Question 5

what is duchenne muscular dystrophy

Answer 5

x linked recessive disorder affecting the gene for dystrophin protein on x chromosome
progressive

Question 6

investigations for duchenne

Answer 6

serum creatine kinase
genetic testing

Question 7

clinical presentation of duchenne

Answer 7

frequent falls
waddling gait
delayed ability to sit, stand or walk
calf pseudohypertrophy

Question 8

complications of duchenne

Answer 8

cardiomyopathy
resp failure
scoliosis

Question 9

red flag symptoms of headaches

Answer 9

persistent/ recurring headaches
balance/ coordination/ walking problems
abnormal eye movements
loss of vision
behaviour change
seizures or fits
reduced consciousness
DI
abnormal growth

Question 10

specific red flag symptoms of headaches in infants

Answer 10

increasing head circumference

Question 11

specific red flag symptoms of headaches in teens

Answer 11

delayed or arrested puberty

Question 12

clinical presentation in frontal seizures

Answer 12

jacksonian march
screaming
urinary incontinence
head or eyes turning to one side
unusual body movements
twitching, jerking or stiffening of muscles

Question 13

clinical presentation of temporal seizures

Answer 13

aura with smell or taste abnormalities
deja vu
automatisms -lip smacking, non-purposeful walking

Question 14

clinical presentation of parietal seizures

Answer 14

paraesthesia/ sensory disturbances
altered sensation

Question 15

management for generalised tonic-clonic seizures

Answer 15

1st line -sodium valproate
2nd line - lamotrigine or carbamazepine

Question 16

management for myoclonic seizures

Answer 16

sodium valproate
Other options: lamotrigine, levetiracetam or topiramate

Question 17

management for absence seizures

Answer 17

First line: sodium valproate or ethosuximide

Question 18

pathophysiology of cmt

Answer 18

defect in gene that are responsible for creating and maintaining myelin and axonal structure