Congenital and neuromuscular conditions Flashcards
What is osteogenesis imperfect?
AKA brittle bone disease
defect in the synthesis or organisation of type 1 collagen
thin osteopenia “gracile” bones
fractures heal wth abundant callus
What are the differences between the milder and rarer cases of osteogenesis inperfecta
Milder cases- autosomal dominant with multiple fragility fractures, blue sclerae, hearing loss
Rarer cases- autosomal recessive and may be fatal in perinatal period or accosted with severe sclerosis and deformity
What is skeletal dysplasia?
Genetic disorder leading to short stature
can be proportionate or disproportionate
What is the treatment for skeletal dysplasia?
Supportive-preventing spinal cord and nerve compression, joint instability and deformity
Where is connective tissue derived from and what does it contain
embryonically from mesoderm
contain collagen ( usually type 1) and elastin, ground substance , H2O
cells inc fibroblasts,macrophages and leucocytes
What is Marfans
autosomal dominant or sporadic mutation of fibrillar gene
fibrillar required as a scaffold for elastin
results in tall stature, long limbs, hyper mobility and arachnodactyly
What is Ehlers-Danlos Syndrome
usually autosomal dominant defect of one of a number of genes involved in collagen and elastin formation- more than 10 types
joint hyper mobility and dislocations
early onset OA
atrophic scars and poor wound healing
ease of bruising
scoliosis, kyphosis,cardiac abnormalities
occipital-atlanto instability, myelopathy,spinal cord tethering
What is Down syndrome?
trisomy 21
joint laxity predisposes to recurrent dislocations and oa
atlanto-axial instability - may lead to spinal cord compression( myelopathy)
What is Duchenne muscular dystrophy?
x-linked recessive (boys only)
Defect in dystrophin calcium transport–> progressive muscle weakness as boys grow older
Gowers sign on standing raised creatinine phosphoinase
scoliosis
progressive cardiac and respiratory failte
usually death in 20s
What age do people with kickers muscular dystrophy die
30s to 40s
What is tellies equinovarus?
deformity of foot aka clubfoot
50% cases bilateral
M:F (2-1)
Abnormal alignment talus,calcaneous and navicular
RF- + FH,breech,oligohydramnios
may be part of generalised skeletal dyspasia
higher risk DDH
What is the treatment for talipes equinovarus?
Ponsetti technique-90% successful
casting for around 9 weeks
boots and bar 23h per day 3 months then night time up to 4 years
risk of recurrence
refractory cases may need complex surgery
In terms of limb abnormalities and deficiencies if they are not genetically determined when are they likely to have occurred?
insult to the developing limb bud around 4th-6th weeks gestation
What is the commonest malformation
Syndactyly –> failure of the separation of the digits
What is fibular hemmimelia?
partial or complete absence of the fibula
associated with shortening of the leg, bowing of the tibia an deformity of the ankle
Mild- limb lengthening with circular frame external fixator
severe- amputation at 10 months to 2 years
Who is obstetric brachial plexus injury most common in?
Large babies (macrosomia, diabetes), twin deliveries and shoulder dystocia
What is era’s palsy?
upper brachial plexus (C5 and C6 roots)
- weakness deltoid, supraspinatus, infraspinatus, biceps, brachial
- internal rotation from unopposed subscapularis–> waiter’s tip posture
- return biceps function by 6 months carries good prognosis
- no recovery- release contractors and tendon transfers
Klumpke’s Palsy
lower brachial plexus injury from traction on abducted arm
–> paralysis intrinsic hand muscles +- finger and wrist flexors
prognosis poorer than for Erbs
What is cerebral palsy?
due to an insult to eh immature brain before 3 years of age
often intrauterine- genetic abnormalities, brain malformation and intrauterine infection
variable expression depending on area of brain affected
What are the different types of cerebral palsy?
Spastic (80%)-motor cortex affected
Ataxic
Athenoid-uncontrolled writhing (basal ganglia)
Dystonic-Repetative movements (basal ganglia)
What does hemiplegic mean
ipsilateral arm and leg affected (CP)
What does diplegia mean
legs only affected (CP)
What is the treatment for CP
Baclofen (inducing intrathecal) Botox injection Neurosurgical procedures (rhizotomy)
joint contractures- surgical release,fusions
What is spina bifida?
Failure of fusion of posterior vertebral arch
