Congenital and Neuromuscular Disorders Flashcards Preview

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Flashcards in Congenital and Neuromuscular Disorders Deck (31)
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1

Osteogenesis imperfecta affects which protein?

Type 1 collagen

2

Osteogenesis imperfecta is inherited in an autosomal ______ manner

dominant - for the majority

3

Signs of Osteogenesis imperfecta

multiple fragility fractures in childhood; blue sclera; short stature with mutliple deformities; loss of hearing

4

skeletal dysplasia is the medical term for...

short stature, dwarfism

5

most common skeletal dysplasia is...

achondroplasia

6

signs of achondroplasia

disproportionately short limbs, prominent forehead, widened nose with lax joints and normal mental development

7

Marfan syndrome is inherited in an autosomal _____ manner

dominant - or sporadic

8

The genetic mutation in Marfan syndrom affects which protein?

fibrillin

9

Overall appearance of a patient with Marfan syndrome

tall stature, disproportionately long limbs, ligamentous laxity

10

Eye features of a patient with Marfans

lens dislocation, glaucoma, retinal detachments

11

Heart problems associated with Marfans?

aortic aneurysm, dissection or regurgitation, mitral valve prolaps or regurgitation

12

Skeletal deformities associated with Marfans?

scoliosis, pectus excavatum

13

Duchenne muscular dystrophy is inherited in what manner?

X-linked recessive

14

Defect in which gene for Duchenne muscular dystrophy?

dystrophin gene - involved in calcium transport causing muscle weakness and cell death with CK release

15

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

16

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

17

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

18

What causes cerebral palsy?

an insult to the immature brain before, during or after birth

19

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

20

Ataxic cerebral palsy affects...?

the cerebellum and thus coordination and balance

21

Athetoid cerebral palsy affects?

the extrapyramidal motor system causing uncontrolled writhing motion, sudden changes in tone and difficulty controlling speech

22

Major MSK problems associated with cerebral palsy (3)

joint contractures, scoliosis, hip dislocation

23

3 main types of cerebral palsy

Spastic, ataxic, athetoid

24

treatment to reduce spasticity in cerebral palsy

baclofen intrathecally

25

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

26

Which layer is responsible for the neural tube defect in spina bifida?

ectoderm

27

Most common and mild form of spina bifida?

SB occulta

28

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

29

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

30

Which of spina bifida cystica is least severe?

meningocele - only the meninges have herniated - usually no neurological deficits