Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

J MSK > Congenital and neuromuscular conditions > Flashcards

Congenital and neuromuscular conditions Flashcards

(98 cards)

Start Studying
1
Q

what is another name for osteogenesis imperfecta

A

brittle bone disease

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

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

A

type 1 collagen in bone mutation

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

presentation of osteogenesis imperfecta (brittle bone disease)

A

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

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

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

is osteogensis imperfecta (brittle bone disease) curable

A

no

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

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

A

bisphosphonates

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

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

what is controversial about bisphosphonates

A

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

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

what is another name for skeletal dysplasia

A

short stature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

aetiology of skeletal dysplasia (short stature)

A

genetic

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

is skeletal dysplasia (short stature) worrying

A

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

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

what is the definition of short stature

A

<2nd centile
OR
<2SDs below midparental height

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

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

investigations for some with ?short stature (skeletal dysplasia)

A

growth charts

bloods

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

haemangiomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

aetiology of connective tissue disorders

A

type 1 collagen in soft tissues mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

presentation of familial joint laxity (double jointed)

A

recurrent dislocations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

aetiology of marfans syndrome

A

autosomal dominant fibrillin mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

how does a fibrillin mutation cause marfans syndrome

A

the gene affects elastin production

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

aetiology of ehlers danlos syndrome

A

genetic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

pathophysiology of ehlers danlos syndrome

A

abnormal elastin and collagen formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
presentation of ehlers danlos syndrome (4)
easy bruising 'elastic' skin joint hypermobility esp fingers early onset osteoarthritis
26
aetiology of downs syndrome
trisomy 21
27
presentation of downs syndrome (3)
short stature joint laxity = recurrent dislocations early onset osteoarthritis
28
who do muscular dystrophies usually affect
boys
29
aetiology of muscular dystrophies
x linked (affects boys)
30
general presentation of muscular dystrophies
muscle weakness and wasting | swollen 'woody' calves
31
3 main types of muscular dystrophy
duchenne muscular dystrophy beckers muscular dystrophy myotonic dystrophy
32
which muscular dystrophy is gowers manoeuvre/sign present in
duchenne muscular dystrophy
33
describe gowers manoeuvre/sign
child needs to push up on knees to be able to stand up, from proximal thigh weakness
34
what is the prognosis of muscular dystrophy
bad, die <40
35
which muscular dystrophy (duchenne or beckers) has better prognosis
beckers muscular dystrophy (die <40 instead of <30)
36
the presentation 'hatchet' like face is in which muscular dystrophy
myotonic dystrophy
37
what is talipes
when the foot is twisted in an abnormal position
38
at which point in gestation do limb malformations occur
6 weeks gestation, at limb bud development
39
what is polydactyly
an extra digit
40
what is fibular hemimelia what does it cause
an absent fibula = tibia bowing
41
what may a hypoplastic (small) radius cause
absent thumb
42
what is the name of your fucked up hand bones
hypoplastic metacarpals
43
what is tarsal coalition
tarsal bone fusion in feet
44
what does tarsal coalition cause
painful fixed flat feet
45
what is syndactyly
when 2 digits are fused bc the skin between them hasn't separated
46
what is obstetric brachial plexus palsy
when the brachial plexus is injured during vaginal delivery and the shoulder gets stuck (shoulder dystocia)
47
who are more likely to get obstetric brachial plexus palsy
twin births | large babies
48
what is erbs palsy which nerves affected
obstetric brachial plexus palsy with upper brachial plexus damage C5 and C6 affected
49
how does a baby with erbs palsy presents
'waiters tip' posture - internal rotation of humerus
50
which muscles loose their motor innervation in erbs palsy (5)
``` deltoid supraspinatus infraspinatus biceps brachialis ```
51
what is the treatment of erbs palsy
physio | surgery if not corrected after 6 months
52
what is klumpkes palsy which nerves affected
obstetric brachial plexus palsy with lower brachial plexus damage C8 and T1 affected
53
presentation of a baby with klumpkes palsy
paralysis of hand muscles, finger and wrist
54
is the prognosis of klumpkes palsy better or worse than the prognosis of erbs palsy
worse (50% recovery vs 90% recovery)
55
what is cerebral palsy
a group of diseases with brain impairing motor function (varying severity)
56
when does cerebral palsy present
<3 years
57
aetiology of cerebral palsy (5)
``` genetics brain trauma and haemorrhage intrauterine infection hypoxia meningitis ```
58
presentation of cerebral palsy (spectrum) (8)
``` learning difficulties missed developmental milestones hip dislocations scoliosis epilepsy sleep problems feeding problems fencing reflex ```
59
what are the 3 types of cerebral palsy
ataxic cerebral palsy athetoid cerebral palsy spastic cerebral palsy
60
presentation of ataxic cerebral palsy
reduced coordination and balance | repetitive movements
61
presentation of athetoid cerebral palsy
``` uncontrolled writhing (twisting movement) speech difficulties ```
62
presentation of spastic cerebral palsy
limb weakness/spasticity
63
which type of cerebral palsy involves speech difficulties
athetoid cerebral palsy
64
which type of cerebral palsy involves repetitive movements
ataxic cerebral palsy
65
what are the 5 types of spastic cerebral palsy
``` monopelgic hemiplegic paraplegic diplegic total body involvement ```
66
limb involvement in monoplegic spastic cerebral palsy
one limb
67
limb involvement in hemiplegic spastic cerebral palsy
ipsilateral (same) upper and lower limb
68
limb involvement in paraplegic spastic cerebral palsy
both legs
69
limb involvement in total body involvement/quadriplegic spastic cerebral palsy
all 4 limbs
70
what is the most common type of spastic cerebral palsy
hemiplegic spastic cerebral palsy (ipsilateral (same) upper and lower limb)
71
treatment of cerebral palsy (3)
physio splints shunt to drain fluid from lateral ventricles
72
how would muscular dystrophy look on a pedigree genetics chart (are males/females affected/carriers)
``` males affected females carriers (rarely affected) ```
73
what kind of developmental problem is cerebral palsy
developmental delay
74
limb involvement in diplegic spastic cerebral palsy
both legs (like paraplegic) but slight involvement elsewhere too
75
what is another name for the fencing reflex associated with cerebral palsy
asymmetrical tonic neck reflex (ATNR)
76
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
6 months cerebral palsy
77
what does the 'fencing reflex' associated with cerebral palsy prevent a child form doing `
rolling over when lying down
78
investigation for cerebral palsy why
MRI looking at ventricle size
79
what is spina bifida
when a baby is born with an undeveloped spine and spinal cord 2 halves of the vertebral arch fail to fuse
80
aetiology of spina bifida (2)
genetic | lack of folic acid during pregnancy
81
presentation of mild spina bifida (spina bifida occulta) (4)
high arched foot clawing of toes hair patch or dimple on lower back bladder/bowel problems
82
what is 'mild' spina bifida also called
spina bifida occulta
83
what is 'severe' spina bifida also called
spina bifida cystica
84
what does meningocele spina bifida cystica (severe) involve
meninges (no neuro involvement)
85
what does myelomeninogcle spina bifida cystica (severe) involve
neurones - cauda equine roots, motor nd sensory innervation
86
how does myelomeninogcle spina bifida cystica (severe) present
cant walk independently
87
how does having failed fusion of vertebral arches cause spinda bifida
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
how is spinda bifida cystica (severe) treated
shunt to remove fluid
89
aetiology of polio
poliovirus
90
how does poliovirus enter the body
faecal oral route
91
how many people infected with poliovirus are symptomatic of polio
5%
92
which anterior horn cells does poliovirus affect
motor
93
how does poliovirus cause polio
affects motor anterior horn cells = lower motor neurone deficit
94
presentation of polio (3)
``` flu like illness growth defects (Eg shortening of limb) muscle weakness (in 1 limb) ```
95
treatment of polio
splint for muscle weakness
96
complication of polio
residual paralysis if partial recovery
97
how can polio be prevented
vaccination
98
what type of vaccination is used for polio
inactivated (salk) vaccination

J MSK (30 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions