Flashcards in Congenital and Neuromuscular Disorders Deck (31)
Osteogenesis imperfecta affects which protein?
Type 1 collagen
Osteogenesis imperfecta is inherited in an autosomal ______ manner
dominant - for the majority
Signs of Osteogenesis imperfecta
multiple fragility fractures in childhood; blue sclera; short stature with mutliple deformities; loss of hearing
skeletal dysplasia is the medical term for...
short stature, dwarfism
most common skeletal dysplasia is...
signs of achondroplasia
disproportionately short limbs, prominent forehead, widened nose with lax joints and normal mental development
Marfan syndrome is inherited in an autosomal _____ manner
dominant - or sporadic
The genetic mutation in Marfan syndrom affects which protein?
Overall appearance of a patient with Marfan syndrome
tall stature, disproportionately long limbs, ligamentous laxity
Eye features of a patient with Marfans
lens dislocation, glaucoma, retinal detachments
Heart problems associated with Marfans?
aortic aneurysm, dissection or regurgitation, mitral valve prolaps or regurgitation
Skeletal deformities associated with Marfans?
scoliosis, pectus excavatum
Duchenne muscular dystrophy is inherited in what manner?
Defect in which gene for Duchenne muscular dystrophy?
dystrophin gene - involved in calcium transport causing muscle weakness and cell death with CK release
Duchenne's muscular dystrophy is characterised by which sign?
Gowers sign - using hands to pull self up to a stand because of weakness in the hips
Duchennes patients will have wasting muscle in legs - TRUE/FALSE
TRUE - BUT you may see calf pseudohypertrophy, where the calf muscle appears enlarged. this is mostly fat and fibrotic tissue
Becker Musclar dystrophy differs from duchenne in which way?
it affects the dystrophin gene but is milder and patients can walk into their 20s and may live to 30/40 years
What causes cerebral palsy?
an insult to the immature brain before, during or after birth
What is the most common version of cerebral palsy?
spastic - injury to motor cortex or upper MN causes weakness or spasticity that increases as child grows
Ataxic cerebral palsy affects...?
the cerebellum and thus coordination and balance
Athetoid cerebral palsy affects?
the extrapyramidal motor system causing uncontrolled writhing motion, sudden changes in tone and difficulty controlling speech
Major MSK problems associated with cerebral palsy (3)
joint contractures, scoliosis, hip dislocation
3 main types of cerebral palsy
Spastic, ataxic, athetoid
treatment to reduce spasticity in cerebral palsy
Brief overview of spina bifida
congenital disorder where two halves of the posterior vertebral arches fail to fuse, probably in the first 6 weeks of gestation
Which layer is responsible for the neural tube defect in spina bifida?
Most common and mild form of spina bifida?
Signs of SB occulta?
may have a tuft of hair or dimple in skin over defect. may have some spinal cord tethering --> high arched foot or clawing of toes
Which of spina bifida cystica is most severe?
myelomeningocele - where the meninges and the spinal cord herniate through the defect - may have sensory and motor deficit below lesion