Brainscape's Knowledge GenomeTM

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


See full index

MSK SB > Children Congenital + Neuromuscular Diseases > Flashcards

Children Congenital + Neuromuscular Diseases Flashcards

1
Q

what is the other name for clubfoot

A

(congenital) talipes equinovarus

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

what causes clubfoot

A

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

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

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

A

50%

boys

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

four components of clubfoot

A 
CAVE
Cavis
Adductus
Varus (alignment of the forefoot)
(ankle) Equinus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is postural talipes

A

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

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

what technique is used to treat clubfoot

A

Ponseti technique

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

what is preformed if ponseti technique does not work

A

tenotomy of the achilles tendon

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what does congenital vertical talus present as

A

rigid rocker-bottom flatfoot

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

what are signs of NF I

A 
Cafe au lat spots
Neurofibromas
Axillary/groin freckling
Lisch nodules
Sphenoid dysplasia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is the cause of skeletal dysplasia

A

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

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

what is the commonest skeletal dysplasia and what are its features

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

signs/symptoms of achondroplasia

A 
Frontal bossing
Midface hypoplasia
Rhizomelic disproportion (proximal part of limbs are short)
Genu varum
Trident hand
Normal intelligence
Motor delay
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what is the genetic mutation linked with NF I

A

17q11.2

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

definition of Cerebral palsy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is the pathogenesis of CP

A 
1 - Brain injury 
2 - increased tone
3 - abnormal posture
4 - contracture
5 - bony deformity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what is the basic principle of spasticity

A

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

17
Q

how do we treat spasticity

A

Benzodiazepines
Baclofen
Selective dorsal rhizotomy - surgery
Botulinum toxin

18
Q

why do we treat spasticity

A

interferes with function

causes pain

19
Q

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

A

spasticity, hyperreflexia, clonus and co-contraction

20
Q

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

A

weakness, fatigability, poor balance and sensory deficits

21
Q

what is the MSK pathology of CP

A

muscle shortening,

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

22
Q

what level of CP are more at risk of dislocation

A

GMFCS Level IV

GMFCS Level V

23
Q

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

A

Botox A
Orthotics - splints
Physiotherapy
Surgery

24
Q

what is tip toe walking and what causes it

A

walking on balls of feet and heels not touching the ground

usually idiopathic but can be an early sign of CP

25
Q

treatment of tip toe walking

A 
usually settles by itself
if still present > 3y/o abnormal
Physio/observation
Splinting/casting
Botox
Surgery
26
Q

what causes DMD

A

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

27
Q

what is the progression of DMD

A

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

28
Q

who gets DMD

A

only boys

X-linked

29
Q

what is a clinical sign of DMD

A

Gower’s Sign

30
Q

what investigations can be done

A

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

31
Q

what is cavus feet

A

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

32
Q

what are the appearance of some people with caves feet

A

claw toes

33
Q

causes of cavus foot

A

HSMN
Muscular dystrophy
Cerebral palsy

MSK SB (15 decks)

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