MSK (neuromuscular + bones)

Question 1

inheritance + genetics Dystrophinopathies

Answer 1

X linked (males) // dystrophin gene

Question 2

mutation Duchenne vs beckers Dystrophinopathies

Answer 2

duchenne = frameshift (severe) // becker = non-frameshift (less severe)

Question 3

symptoms Duchennes

Answer 3

progressive proximal weakness // calf pseudohypertrophy // gowers sign (uses hand to stand from squat) // intellectual impairment

Question 4

invx Duchennes

Answer 4

raised CK // genetic testing

Question 5

prognosis + cause of death duchennes

Answer 5

cant walk by 12, die 25-30 // dilated cardiomyopathy or breathing problems

Question 6

symptoms beckers

Answer 6

better prognosis, develops after age 10, less intellectual impairment

Question 7

causes cerebral palsy

Answer 7

antenatal - cerebral malformation or infection // intrapartum asphyxia or trauma // postnatal haemrrhage, meningitis

Question 8

symptoms cerebral palsy

Answer 8

abnormal tone, delayed motor milestones, abnormal gait, feeding difficulty, learning difficulties, epilepsy

Question 9

spastic cerebral palsy

Answer 9

increased tone from UMN –> hemiplegia, diplegia, quadriplegia

Question 10

dyskinetic cerebral palsy

Answer 10

damage to basal ganglia and substantia nigra –> atheoid movements + oromotor

Question 11

ataxic cerebral palsy

Answer 11

damage to cerebellar

Question 12

mx cerebral palsy

Answer 12

spastiicty = diazepam, baclofen, botox // AED if epilepsy

Question 13

RF brachial plexus injuries

Answer 13

macrosomnia, twins, shoulder dystocia

Question 14

damage in Erbs palsy

Answer 14

C5,6

Question 15

symptoms erbs palsy

Answer 15

winged scapula, waiters tip position (bent elbow and flexed hand)

Question 16

damage klumpkes palsy

Answer 16

damage to C8-T1

Question 17

symptoms klumpes

Answer 17

paralysis intrinsic hand muslces // flexed fingers

Question 18

what is plagiocephaly

Answer 18

parallelogram shaped head from abnormal skull

Question 19

what is Craniosynostosis

Answer 19

premature fusion of skull

Question 20

when does pes planus resolve

Answer 20

flat feet // age 4-8

Question 21

when does genu varum resolve

Answer 21

bow legs common age 1-2 // resolves age 4-5

Question 22

when does genu valgum occur

Answer 22

knock knees, common age 3-4

Question 23

RF rickets

Answer 23

deficiency Ca (developed world) , prolonged breastfeeding, unsupplemented cows milk formula, lack of sunlight

Question 24

cause rickets

Answer 24

Vit D def (osteomalacia in kids)

Question 25

symptoms rickets

Answer 25

aching bones // lower limb abnormality // ricket rosary - swelling at costocondral junction // kyphoscoliosis // soft skull

Question 26

invx rickets

Answer 26

low Vit D, low Ca, raised ALP

Question 27

mx rickets

Answer 27

oral Vit D

Question 28

inheritance achondroplasia + mutation

Answer 28

autosomal dominant - mutation in fibroplast growth factor // (most of the time sporadic mutation)

Question 29

features achondroplasia

Answer 29

short limbs + fingers // large head, frontal bossing // midface hypoplasia + flattened nasal bridge // trident hands // lumbar lordosis

Question 30

RF achondroplasia

Answer 30

old parents

Question 31

wat is spina bifida

Answer 31

non-fusion of vertebral arches in embyronic development