Congenital and neuromuscular conditions Flashcards
what is another name for osteogenesis imperfecta
brittle bone disease
what is the cause of osteogenesis imperfect (brittle bone disease)
type 1 collagen in bone mutation
presentation of osteogenesis imperfecta (brittle bone disease)
bones easy to fracture
short stature
osteopenia (low bone density)
blue sclera
what is the physiology behind osteogenesis imperfecta (brittle bone disease) and blue sclera
type 1 collagen mutation = thinner sclera = can see veins through sclera
is osteogensis imperfecta (brittle bone disease) curable
no
what treatment can you give someone with osteogenesis imperfecta (brittle bone disease)
bisphosphonates
how do bisphosphonates help people with osteogenesis imperfecta (brittle bone disease)
inhibit osteoclasts (osteoclasts chew bone)
increase bone mineral density
decrease overall fracture risk
what is controversial about bisphosphonates
they increase bone mineral density, but increase your risk of ATYPICAL fractures (unknown mechanism)
what is another name for skeletal dysplasia
short stature
aetiology of skeletal dysplasia (short stature)
genetic
is skeletal dysplasia (short stature) worrying
to the families yes, but to you no - unless serious they will be fine
what is the definition of short stature
<2nd centile
OR
<2SDs below midparental height
what is different about the presentation achondroplasia in comparison to other types of short stature (eg growth delay, deprivation)
no proportionately small, long back short limbs
prominent forehead
investigations for some with ?short stature (skeletal dysplasia)
growth charts
bloods
if you are worried about achondroplasia what investigation would you do
measure standing and sitting height, spine should be <50% of standing height
what type of cancer has increased risk in people with skeletal dysplasia (short stature)
haemangiomas
aetiology of connective tissue disorders
type 1 collagen in soft tissues mutation
what are the 5 types of soft tissue disorder
familial joint laxity (double jointed) marfans syndrome ehlers danlos syndrome downs syndrome skeletal dysplasia
presentation of familial joint laxity (double jointed)
recurrent dislocations
aetiology of marfans syndrome
autosomal dominant fibrillin mutation
how does a fibrillin mutation cause marfans syndrome
the gene affects elastin production
presentation of marfans (9)
very tall limbs proportionally long high arched palate hypermobility flattening of chest (pectus excavatum) eyes - lens dislocated up, retinal detachment aortic aneurysm hypertension
aetiology of ehlers danlos syndrome
genetic
pathophysiology of ehlers danlos syndrome
abnormal elastin and collagen formation
presentation of ehlers danlos syndrome (4)
easy bruising
‘elastic’ skin
joint hypermobility esp fingers
early onset osteoarthritis
aetiology of downs syndrome
trisomy 21
presentation of downs syndrome (3)
short stature
joint laxity = recurrent dislocations
early onset osteoarthritis
who do muscular dystrophies usually affect
boys
aetiology of muscular dystrophies
x linked (affects boys)
general presentation of muscular dystrophies
muscle weakness and wasting
swollen ‘woody’ calves
3 main types of muscular dystrophy
duchenne muscular dystrophy
beckers muscular dystrophy
myotonic dystrophy
which muscular dystrophy is gowers manoeuvre/sign present in
duchenne muscular dystrophy
describe gowers manoeuvre/sign
child needs to push up on knees to be able to stand up, from proximal thigh weakness
what is the prognosis of muscular dystrophy
bad, die <40
which muscular dystrophy (duchenne or beckers) has better prognosis
beckers muscular dystrophy (die <40 instead of <30)
the presentation ‘hatchet’ like face is in which muscular dystrophy
myotonic dystrophy
what is talipes
when the foot is twisted in an abnormal position
at which point in gestation do limb malformations occur
6 weeks gestation, at limb bud development
what is polydactyly
an extra digit
what is fibular hemimelia
what does it cause
an absent fibula = tibia bowing
what may a hypoplastic (small) radius cause
absent thumb
what is the name of your fucked up hand bones
hypoplastic metacarpals
what is tarsal coalition
tarsal bone fusion in feet
what does tarsal coalition cause
painful fixed flat feet
what is syndactyly
when 2 digits are fused bc the skin between them hasn’t separated
what is obstetric brachial plexus palsy
when the brachial plexus is injured during vaginal delivery and the shoulder gets stuck (shoulder dystocia)
who are more likely to get obstetric brachial plexus palsy
twin births
large babies
what is erbs palsy
which nerves affected
obstetric brachial plexus palsy with upper brachial plexus damage
C5 and C6 affected
how does a baby with erbs palsy presents
‘waiters tip’ posture - internal rotation of humerus
which muscles loose their motor innervation in erbs palsy (5)
deltoid supraspinatus infraspinatus biceps brachialis
what is the treatment of erbs palsy
physio
surgery if not corrected after 6 months
what is klumpkes palsy
which nerves affected
obstetric brachial plexus palsy with lower brachial plexus damage
C8 and T1 affected
presentation of a baby with klumpkes palsy
paralysis of hand muscles, finger and wrist
is the prognosis of klumpkes palsy better or worse than the prognosis of erbs palsy
worse (50% recovery vs 90% recovery)
what is cerebral palsy
a group of diseases with brain impairing motor function (varying severity)
when does cerebral palsy present
<3 years
aetiology of cerebral palsy (5)
genetics brain trauma and haemorrhage intrauterine infection hypoxia meningitis
presentation of cerebral palsy (spectrum) (8)
learning difficulties missed developmental milestones hip dislocations scoliosis epilepsy sleep problems feeding problems fencing reflex
what are the 3 types of cerebral palsy
ataxic cerebral palsy
athetoid cerebral palsy
spastic cerebral palsy
presentation of ataxic cerebral palsy
reduced coordination and balance
repetitive movements
presentation of athetoid cerebral palsy
uncontrolled writhing (twisting movement) speech difficulties
presentation of spastic cerebral palsy
limb weakness/spasticity
which type of cerebral palsy involves speech difficulties
athetoid cerebral palsy
which type of cerebral palsy involves repetitive movements
ataxic cerebral palsy
what are the 5 types of spastic cerebral palsy
monopelgic hemiplegic paraplegic diplegic total body involvement
limb involvement in monoplegic spastic cerebral palsy
one limb
limb involvement in hemiplegic spastic cerebral palsy
ipsilateral (same) upper and lower limb
limb involvement in paraplegic spastic cerebral palsy
both legs
limb involvement in total body involvement/quadriplegic spastic cerebral palsy
all 4 limbs
what is the most common type of spastic cerebral palsy
hemiplegic spastic cerebral palsy (ipsilateral (same) upper and lower limb)
treatment of cerebral palsy (3)
physio
splints
shunt to drain fluid from lateral ventricles
how would muscular dystrophy look on a pedigree genetics chart (are males/females affected/carriers)
males affected females carriers (rarely affected)
what kind of developmental problem is cerebral palsy
developmental delay
limb involvement in diplegic spastic cerebral palsy
both legs (like paraplegic) but slight involvement elsewhere too
what is another name for the fencing reflex associated with cerebral palsy
asymmetrical tonic neck reflex (ATNR)
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
what does the ‘fencing reflex’ associated with cerebral palsy prevent a child form doing `
rolling over when lying down
investigation for cerebral palsy
why
MRI looking at ventricle size
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
aetiology of spina bifida (2)
genetic
lack of folic acid during pregnancy
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
what is ‘mild’ spina bifida also called
spina bifida occulta
what is ‘severe’ spina bifida also called
spina bifida cystica
what does meningocele spina bifida cystica (severe) involve
meninges (no neuro involvement)
what does myelomeninogcle spina bifida cystica (severe) involve
neurones - cauda equine roots, motor nd sensory innervation
how does myelomeninogcle spina bifida cystica (severe) present
cant walk independently
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
how is spinda bifida cystica (severe) treated
shunt to remove fluid
aetiology of polio
poliovirus
how does poliovirus enter the body
faecal oral route
how many people infected with poliovirus are symptomatic of polio
5%
which anterior horn cells does poliovirus affect
motor
how does poliovirus cause polio
affects motor anterior horn cells = lower motor neurone deficit
presentation of polio (3)
flu like illness growth defects (Eg shortening of limb) muscle weakness (in 1 limb)
treatment of polio
splint for muscle weakness
complication of polio
residual paralysis if partial recovery
how can polio be prevented
vaccination
what type of vaccination is used for polio
inactivated (salk) vaccination
