Children Congenital + Neuromuscular Diseases Flashcards
what is the other name for clubfoot
(congenital) talipes equinovarus
what causes clubfoot
in utero abnormal alignment of the joints between the talus, calcaneus and navicular
how many cases of clubfoot are bilateral and who is more likely to get it
50%
boys
four components of clubfoot
CAVE Cavis Adductus Varus (alignment of the forefoot) (ankle) Equinus
what is postural talipes
when babies born, feet are squished up and looks a little clubfoot. However, they can be stretched out
what technique is used to treat clubfoot
Ponseti technique
what is preformed if ponseti technique does not work
tenotomy of the achilles tendon
what does congenital vertical talus present as
rigid rocker-bottom flatfoot
what are signs of NF I
Cafe au lat spots Neurofibromas Axillary/groin freckling Lisch nodules Sphenoid dysplasia
what is the cause of skeletal dysplasia
genetic error resulting in abnormal development of bone and connective tissue
> 300 described
what is the commonest skeletal dysplasia and what are its features
achondroplasia
disproportionately short limbs with a prominent forehead and widened nose. Joints are lax and mental development is normal.
signs/symptoms of achondroplasia
Frontal bossing Midface hypoplasia Rhizomelic disproportion (proximal part of limbs are short) Genu varum Trident hand Normal intelligence Motor delay
what is the genetic mutation linked with NF I
17q11.2
definition of Cerebral palsy
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
what is the pathogenesis of CP
1 - Brain injury 2 - increased tone 3 - abnormal posture 4 - contracture 5 - bony deformity
what is the basic principle of spasticity
when you excite one muscle the other should relax - if it doesn’t and they are both contracted = spasticity
how do we treat spasticity
Benzodiazepines
Baclofen
Selective dorsal rhizotomy - surgery
Botulinum toxin
why do we treat spasticity
interferes with function
causes pain
what are the features in CP of a loss of lower motor neurone INHIBITION
spasticity, hyperreflexia, clonus and co-contraction
what are the features in CP of a loss of connection of lower motor neurone
weakness, fatigability, poor balance and sensory deficits
what is the MSK pathology of CP
muscle shortening,
bone torsion, joint instability (including dislocation) and degenerative arthritis
what level of CP are more at risk of dislocation
GMFCS Level IV
GMFCS Level V
what treatment can be used for CP GMFCS Level I-III
Botox A
Orthotics - splints
Physiotherapy
Surgery
what is tip toe walking and what causes it
walking on balls of feet and heels not touching the ground
usually idiopathic but can be an early sign of CP
treatment of tip toe walking
usually settles by itself if still present > 3y/o abnormal Physio/observation Splinting/casting Botox Surgery
what causes DMD
defect in dystrophin gene involved in calcium transport results in muscle weakness
what is the progression of DMD
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
who gets DMD
only boys
X-linked
what is a clinical sign of DMD
Gower’s Sign
what investigations can be done
Serum CK - very very high
Screen - Xp21 mutation
muscle biopsy - abnormalities
what is cavus feet
deformity of the foot which has a very high arch and is relatively stiff.
This deformity does not flatten on weight-bearing
what are the appearance of some people with caves feet
claw toes
causes of cavus foot
HSMN
Muscular dystrophy
Cerebral palsy
