Congenital and Neuromuscular Disorders

Question 1

Osteogenesis imperfecta affects which protein?

Answer 1

Type 1 collagen

Question 2

Osteogenesis imperfecta is inherited in an autosomal ______ manner

Answer 2

dominant - for the majority

Question 3

Signs of Osteogenesis imperfecta

Answer 3

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

Question 4

skeletal dysplasia is the medical term for…

Answer 4

short stature, dwarfism

Question 5

most common skeletal dysplasia is…

Answer 5

achondroplasia

Question 6

signs of achondroplasia

Answer 6

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

Question 7

Marfan syndrome is inherited in an autosomal _____ manner

Answer 7

dominant - or sporadic

Question 8

The genetic mutation in Marfan syndrom affects which protein?

Answer 8

fibrillin

Question 9

Overall appearance of a patient with Marfan syndrome

Answer 9

tall stature, disproportionately long limbs, ligamentous laxity

Question 10

Eye features of a patient with Marfans

Answer 10

lens dislocation, glaucoma, retinal detachments

Question 11

Heart problems associated with Marfans?

Answer 11

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

Question 12

Skeletal deformities associated with Marfans?

Answer 12

scoliosis, pectus excavatum

Question 13

Duchenne muscular dystrophy is inherited in what manner?

Answer 13

X-linked recessive

Question 14

Defect in which gene for Duchenne muscular dystrophy?

Answer 14

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

Question 15

Duchenne’s muscular dystrophy is characterised by which sign?

Answer 15

Gowers sign - using hands to pull self up to a stand because of weakness in the hips

Question 16

Duchennes patients will have wasting muscle in legs - TRUE/FALSE

Answer 16

TRUE - BUT you may see calf pseudohypertrophy, where the calf muscle appears enlarged. this is mostly fat and fibrotic tissue

Question 17

Becker Musclar dystrophy differs from duchenne in which way?

Answer 17

it affects the dystrophin gene but is milder and patients can walk into their 20s and may live to 30/40 years

Question 18

What causes cerebral palsy?

Answer 18

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

Question 19

What is the most common version of cerebral palsy?

Answer 19

spastic - injury to motor cortex or upper MN causes weakness or spasticity that increases as child grows

Question 20

Ataxic cerebral palsy affects…?

Answer 20

the cerebellum and thus coordination and balance

Question 21

Athetoid cerebral palsy affects?

Answer 21

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

Question 22

Major MSK problems associated with cerebral palsy (3)

Answer 22

joint contractures, scoliosis, hip dislocation

Question 23

3 main types of cerebral palsy

Answer 23

Spastic, ataxic, athetoid

Question 24

treatment to reduce spasticity in cerebral palsy

Answer 24

baclofen intrathecally

Question 25

Brief overview of spina bifida

Answer 25

congenital disorder where two halves of the posterior vertebral arches fail to fuse, probably in the first 6 weeks of gestation

Question 26

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

Answer 26

ectoderm

Question 27

Most common and mild form of spina bifida?

Answer 27

SB occulta

Question 28

Signs of SB occulta?

Answer 28

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

Question 29

Which of spina bifida cystica is most severe?

Answer 29

myelomeningocele - where the meninges and the spinal cord herniate through the defect - may have sensory and motor deficit below lesion

Question 30

Which of spina bifida cystica is least severe?

Answer 30

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

Question 31

myelomeningocele SB may also be associated with…

Answer 31

herniation of the cerebellum through the foramen magnum and hydrocephelus