Children Congenital + Neuromuscular Diseases

Question 1

what is the other name for clubfoot

Answer 1

(congenital) talipes equinovarus

Question 2

what causes clubfoot

Answer 2

in utero abnormal alignment of the joints between the talus, calcaneus and navicular

Question 3

how many cases of clubfoot are bilateral and who is more likely to get it

Answer 3

50%

boys

Question 4

four components of clubfoot

Answer 4

CAVE
Cavis
Adductus
Varus (alignment of the forefoot)
(ankle) Equinus

Question 5

what is postural talipes

Answer 5

when babies born, feet are squished up and looks a little clubfoot. However, they can be stretched out

Question 6

what technique is used to treat clubfoot

Answer 6

Ponseti technique

Question 7

what is preformed if ponseti technique does not work

Answer 7

tenotomy of the achilles tendon

Question 8

what does congenital vertical talus present as

Answer 8

rigid rocker-bottom flatfoot

Question 9

what are signs of NF I

Answer 9

Cafe au lat spots
Neurofibromas
Axillary/groin freckling
Lisch nodules
Sphenoid dysplasia

Question 10

what is the cause of skeletal dysplasia

Answer 10

genetic error resulting in abnormal development of bone and connective tissue
> 300 described

Question 11

what is the commonest skeletal dysplasia and what are its features

Answer 11

achondroplasia
disproportionately short limbs with a prominent forehead and widened nose. Joints are lax and mental development is normal.

Question 12

signs/symptoms of achondroplasia

Answer 12

Frontal bossing
Midface hypoplasia
Rhizomelic disproportion (proximal part of limbs are short)
Genu varum
Trident hand
Normal intelligence
Motor delay

Question 13

what is the genetic mutation linked with NF I

Answer 13

17q11.2

Question 14

definition of Cerebral palsy

Answer 14

A persisting qualitative motor disorder appearing before the age of three years, due to non progressive damage to the encephalon occurring before the growth of the central nervous system is complete

Question 15

what is the pathogenesis of CP

Answer 15

1 - Brain injury 
2 - increased tone
3 - abnormal posture
4 - contracture
5 - bony deformity

Question 16

what is the basic principle of spasticity

Answer 16

when you excite one muscle the other should relax - if it doesn’t and they are both contracted = spasticity

Question 17

how do we treat spasticity

Answer 17

Benzodiazepines
Baclofen
Selective dorsal rhizotomy - surgery
Botulinum toxin

Question 18

why do we treat spasticity

Answer 18

interferes with function

causes pain

Question 19

what are the features in CP of a loss of lower motor neurone INHIBITION

Answer 19

spasticity, hyperreflexia, clonus and co-contraction

Question 20

what are the features in CP of a loss of connection of lower motor neurone

Answer 20

weakness, fatigability, poor balance and sensory deficits

Question 21

what is the MSK pathology of CP

Answer 21

muscle shortening,

bone torsion, joint instability (including dislocation) and degenerative arthritis

Question 22

what level of CP are more at risk of dislocation

Answer 22

GMFCS Level IV

GMFCS Level V

Question 23

what treatment can be used for CP GMFCS Level I-III

Answer 23

Botox A
Orthotics - splints
Physiotherapy
Surgery

Question 24

what is tip toe walking and what causes it

Answer 24

walking on balls of feet and heels not touching the ground

usually idiopathic but can be an early sign of CP

Question 25

treatment of tip toe walking

Answer 25

``` usually settles by itself if still present > 3y/o abnormal Physio/observation Splinting/casting Botox Surgery ```

Question 26

what causes DMD

Answer 26

defect in dystrophin gene involved in calcium transport results in muscle weakness

Question 27

what is the progression of DMD

Answer 27

Progressive muscle weakness follows and by the age of 10 or so he can no longer walk and by age 20 progressive cardiac and respiratory failure develop with death typically in the early 20s

Question 28

who gets DMD

Answer 28

only boys | X-linked

Question 29

what is a clinical sign of DMD

Answer 29

Gower's Sign

Question 30

what investigations can be done

Answer 30

Serum CK - very very high Screen - Xp21 mutation muscle biopsy - abnormalities

Question 31

what is cavus feet

Answer 31

deformity of the foot which has a very high arch and is relatively stiff. This deformity does not flatten on weight-bearing

Question 32

what are the appearance of some people with caves feet

Answer 32

claw toes

Question 33

causes of cavus foot

Answer 33

HSMN Muscular dystrophy Cerebral palsy