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J MSK > Congenital and neuromuscular conditions > Flashcards

Congenital and neuromuscular conditions Flashcards

1
Q

what is another name for osteogenesis imperfecta

A

brittle bone disease

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2
Q

what is the cause of osteogenesis imperfect (brittle bone disease)

A

type 1 collagen in bone mutation

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3
Q

presentation of osteogenesis imperfecta (brittle bone disease)

A

bones easy to fracture
short stature
osteopenia (low bone density)
blue sclera

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4
Q

what is the physiology behind osteogenesis imperfecta (brittle bone disease) and blue sclera

A

type 1 collagen mutation = thinner sclera = can see veins through sclera

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5
Q

is osteogensis imperfecta (brittle bone disease) curable

A

no

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6
Q

what treatment can you give someone with osteogenesis imperfecta (brittle bone disease)

A

bisphosphonates

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7
Q

how do bisphosphonates help people with osteogenesis imperfecta (brittle bone disease)

A

inhibit osteoclasts (osteoclasts chew bone)
increase bone mineral density
decrease overall fracture risk

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8
Q

what is controversial about bisphosphonates

A

they increase bone mineral density, but increase your risk of ATYPICAL fractures (unknown mechanism)

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9
Q

what is another name for skeletal dysplasia

A

short stature

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10
Q

aetiology of skeletal dysplasia (short stature)

A

genetic

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11
Q

is skeletal dysplasia (short stature) worrying

A

to the families yes, but to you no - unless serious they will be fine

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12
Q

what is the definition of short stature

A

<2nd centile
OR
<2SDs below midparental height

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13
Q

what is different about the presentation achondroplasia in comparison to other types of short stature (eg growth delay, deprivation)

A

no proportionately small, long back short limbs

prominent forehead

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14
Q

investigations for some with ?short stature (skeletal dysplasia)

A

growth charts

bloods

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15
Q

if you are worried about achondroplasia what investigation would you do

A

measure standing and sitting height, spine should be <50% of standing height

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16
Q

what type of cancer has increased risk in people with skeletal dysplasia (short stature)

A

haemangiomas

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17
Q

aetiology of connective tissue disorders

A

type 1 collagen in soft tissues mutation

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18
Q

what are the 5 types of soft tissue disorder

A 
familial joint laxity (double jointed) 
marfans syndrome 
ehlers danlos syndrome 
downs syndrome 
skeletal dysplasia
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19
Q

presentation of familial joint laxity (double jointed)

A

recurrent dislocations

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20
Q

aetiology of marfans syndrome

A

autosomal dominant fibrillin mutation

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21
Q

how does a fibrillin mutation cause marfans syndrome

A

the gene affects elastin production

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22
Q

presentation of marfans (9)

A 
very tall
limbs proportionally long 
high arched palate
hypermobility 
flattening of chest (pectus excavatum)
eyes - lens dislocated up, retinal detachment 
aortic aneurysm
hypertension
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23
Q

aetiology of ehlers danlos syndrome

A

genetic

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24
Q

pathophysiology of ehlers danlos syndrome

A

abnormal elastin and collagen formation

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25
Q

presentation of ehlers danlos syndrome (4)

A

easy bruising
‘elastic’ skin
joint hypermobility esp fingers
early onset osteoarthritis

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26
Q

aetiology of downs syndrome

A

trisomy 21

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27
Q

presentation of downs syndrome (3)

A

short stature
joint laxity = recurrent dislocations
early onset osteoarthritis

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28
Q

who do muscular dystrophies usually affect

A

boys

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29
Q

aetiology of muscular dystrophies

A

x linked (affects boys)

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30
Q

general presentation of muscular dystrophies

A

muscle weakness and wasting

swollen ‘woody’ calves

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31
Q

3 main types of muscular dystrophy

A

duchenne muscular dystrophy
beckers muscular dystrophy
myotonic dystrophy

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32
Q

which muscular dystrophy is gowers manoeuvre/sign present in

A

duchenne muscular dystrophy

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33
Q

describe gowers manoeuvre/sign

A

child needs to push up on knees to be able to stand up, from proximal thigh weakness

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34
Q

what is the prognosis of muscular dystrophy

A

bad, die <40

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35
Q

which muscular dystrophy (duchenne or beckers) has better prognosis

A

beckers muscular dystrophy (die <40 instead of <30)

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36
Q

the presentation ‘hatchet’ like face is in which muscular dystrophy

A

myotonic dystrophy

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37
Q

what is talipes

A

when the foot is twisted in an abnormal position

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38
Q

at which point in gestation do limb malformations occur

A

6 weeks gestation, at limb bud development

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39
Q

what is polydactyly

A

an extra digit

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40
Q

what is fibular hemimelia

what does it cause

A

an absent fibula = tibia bowing

41
Q

what may a hypoplastic (small) radius cause

A

absent thumb

42
Q

what is the name of your fucked up hand bones

A

hypoplastic metacarpals

43
Q

what is tarsal coalition

A

tarsal bone fusion in feet

44
Q

what does tarsal coalition cause

A

painful fixed flat feet

45
Q

what is syndactyly

A

when 2 digits are fused bc the skin between them hasn’t separated

46
Q

what is obstetric brachial plexus palsy

A

when the brachial plexus is injured during vaginal delivery and the shoulder gets stuck (shoulder dystocia)

47
Q

who are more likely to get obstetric brachial plexus palsy

A

twin births

large babies

48
Q

what is erbs palsy

which nerves affected

A

obstetric brachial plexus palsy with upper brachial plexus damage

C5 and C6 affected

49
Q

how does a baby with erbs palsy presents

A

‘waiters tip’ posture - internal rotation of humerus

50
Q

which muscles loose their motor innervation in erbs palsy (5)

A 
deltoid 
supraspinatus 
infraspinatus 
biceps 
brachialis
51
Q

what is the treatment of erbs palsy

A

physio

surgery if not corrected after 6 months

52
Q

what is klumpkes palsy

which nerves affected

A

obstetric brachial plexus palsy with lower brachial plexus damage

C8 and T1 affected

53
Q

presentation of a baby with klumpkes palsy

A

paralysis of hand muscles, finger and wrist

54
Q

is the prognosis of klumpkes palsy better or worse than the prognosis of erbs palsy

A

worse (50% recovery vs 90% recovery)

55
Q

what is cerebral palsy

A

a group of diseases with brain impairing motor function (varying severity)

56
Q

when does cerebral palsy present

A

<3 years

57
Q

aetiology of cerebral palsy (5)

A 
genetics 
brain trauma and haemorrhage 
intrauterine infection 
hypoxia 
meningitis
58
Q

presentation of cerebral palsy (spectrum) (8)

A 
learning difficulties 
missed developmental milestones 
hip dislocations 
scoliosis 
epilepsy
sleep problems
feeding problems 
fencing reflex
59
Q

what are the 3 types of cerebral palsy

A

ataxic cerebral palsy
athetoid cerebral palsy
spastic cerebral palsy

60
Q

presentation of ataxic cerebral palsy

A

reduced coordination and balance

repetitive movements

61
Q

presentation of athetoid cerebral palsy

A 
uncontrolled writhing (twisting movement) 
speech difficulties
62
Q

presentation of spastic cerebral palsy

A

limb weakness/spasticity

63
Q

which type of cerebral palsy involves speech difficulties

A

athetoid cerebral palsy

64
Q

which type of cerebral palsy involves repetitive movements

A

ataxic cerebral palsy

65
Q

what are the 5 types of spastic cerebral palsy

A 
monopelgic 
hemiplegic 
paraplegic
diplegic 
total body involvement
66
Q

limb involvement in monoplegic spastic cerebral palsy

A

one limb

67
Q

limb involvement in hemiplegic spastic cerebral palsy

A

ipsilateral (same) upper and lower limb

68
Q

limb involvement in paraplegic spastic cerebral palsy

A

both legs

69
Q

limb involvement in total body involvement/quadriplegic spastic cerebral palsy

A

all 4 limbs

70
Q

what is the most common type of spastic cerebral palsy

A

hemiplegic spastic cerebral palsy (ipsilateral (same) upper and lower limb)

71
Q

treatment of cerebral palsy (3)

A

physio
splints
shunt to drain fluid from lateral ventricles

72
Q

how would muscular dystrophy look on a pedigree genetics chart (are males/females affected/carriers)

A 
males affected
females carriers (rarely affected)
73
Q

what kind of developmental problem is cerebral palsy

A

developmental delay

74
Q

limb involvement in diplegic spastic cerebral palsy

A

both legs (like paraplegic) but slight involvement elsewhere too

75
Q

what is another name for the fencing reflex associated with cerebral palsy

A

asymmetrical tonic neck reflex (ATNR)

76
Q

at what age should you be worried if a child still has a ‘fencing reflex’ (before this age it is still considered normal)

what condition are you worried about

A

6 months

cerebral palsy

77
Q

what does the ‘fencing reflex’ associated with cerebral palsy prevent a child form doing `

A

rolling over when lying down

78
Q

investigation for cerebral palsy

why

A

MRI looking at ventricle size

79
Q

what is spina bifida

A

when a baby is born with an undeveloped spine and spinal cord

2 halves of the vertebral arch fail to fuse

80
Q

aetiology of spina bifida (2)

A

genetic

lack of folic acid during pregnancy

81
Q

presentation of mild spina bifida (spina bifida occulta) (4)

A

high arched foot
clawing of toes
hair patch or dimple on lower back
bladder/bowel problems

82
Q

what is ‘mild’ spina bifida also called

A

spina bifida occulta

83
Q

what is ‘severe’ spina bifida also called

A

spina bifida cystica

84
Q

what does meningocele spina bifida cystica (severe) involve

A

meninges (no neuro involvement)

85
Q

what does myelomeninogcle spina bifida cystica (severe) involve

A

neurones - cauda equine roots, motor nd sensory innervation

86
Q

how does myelomeninogcle spina bifida cystica (severe) present

A

cant walk independently

87
Q

how does having failed fusion of vertebral arches cause spinda bifida

A

they fill with cerebrospinal fluid (hydrocephalus = increased intracranial pressure)
the fluid in the lower back bulge will compress on spinal cord, cauda equine etc

88
Q

how is spinda bifida cystica (severe) treated

A

shunt to remove fluid

89
Q

aetiology of polio

A

poliovirus

90
Q

how does poliovirus enter the body

A

faecal oral route

91
Q

how many people infected with poliovirus are symptomatic of polio

A

5%

92
Q

which anterior horn cells does poliovirus affect

A

motor

93
Q

how does poliovirus cause polio

A

affects motor anterior horn cells = lower motor neurone deficit

94
Q

presentation of polio (3)

A 
flu like illness
growth defects (Eg shortening of limb) 
muscle weakness (in 1 limb)
95
Q

treatment of polio

A

splint for muscle weakness

96
Q

complication of polio

A

residual paralysis if partial recovery

97
Q

how can polio be prevented

A

vaccination

98
Q

what type of vaccination is used for polio

A

inactivated (salk) vaccination

J MSK (30 decks)

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