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MSK Week 4 2017/18 > 10: Congenital and neuromuscular conditions > Flashcards

10: Congenital and neuromuscular conditions Flashcards

1
Q

What is the common name for osteogenesis imperfecta?

A

Brittle bone disease

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2
Q

Which protein is defective in osteogenesis imperfecta?

A

Type ONE collagen

bONE

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3
Q

Osteogenesis imperfecta is autosomal (dominant / recessive).

A

both

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4
Q

People with osteogenesis imperfecta present with fractures and what unusual features?

A

Blue sclera

Hearing loss

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5
Q

How are bones described in osteogenesis imperfecta?

A

Osteopenic and gracile

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6
Q

How is severe osteogenesis imperfecta treated?

A

Osteotomy

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7
Q

Osteogenesis imperfecta is a type of skeletal ___.

A

skeletal dysplasia

because it causes short stature

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8
Q

What is the main presentation of skeletal dysplasia?

A

Dwarfism

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9
Q

What are the two categories of skeletal dysplasia?

A

Proportionate

Disproportionate

depending on limb presentation

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10
Q

Skeletal dysplasia has an (environmental / genetic) pathogenesis and is treated ___.

A

genetic

supportively - preventing compression, joint instability, deformity

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11
Q

What is a well known skeletal dysplasia?

A

Achondroplasia

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12
Q

What are two common connective tissue disorders?

A

Marfan’s syndrome

Ehlers-Danlos syndrome

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13
Q

What are connective tissues?

A

Tendons

Ligaments

Cartilage

Bone

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14
Q

Which germ layer does connective tissue come from?

A

Mesoderm

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15
Q

What type of collagen is found in hyaline cartilage?

A

Type II collagen

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16
Q

Apart from collagen, what other protein is important in connective tissue?

A

Elastin

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17
Q

The gene for which protein is mutated in Marfan’s syndrome?

A

Fibrillin

Precursor to elastin

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18
Q

What is the presentation of Marfan’s syndrome?

A

Tall

Long limbs

Hypermobility

Arachnodactyly

High arched palate

Pectus excavatum

Scoliosis

Cardiac valve issues

Respiratory issues …

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19
Q

Ehlers-Danlos syndrome is autosomal (dominant / recessive).

A

autosomal dominant

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20
Q

The genes for which proteins are mutated in Ehlers-Danlos syndrome?

A

Collagen

Elastin

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21
Q

What is the presentation of Ehlers-Danlos syndrome?

A

Hypermobility > dislocations

Stretchy skin

Scoliosis > OA

Easy bruising

Cardiac issues

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22
Q

What genetic syndrome, causing learning difficulties, is associated with atlanto-axial instability, recurrent dislocation and OA?

A

Down syndrome

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23
Q

What is the mode of inheritance of DMD?

A

X-linked recessive

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24
Q

DMD only affects (boys / girls).

A

boys

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25
Q

Which gene is affected in DMD?

What does it control?

A

Dystrophin

Calcium transport - essential for muscle contraction

26
Q

What is the presentation of DMD?

A

Progressive muscle weakness

Scoliosis

Cardiac and resp. failure

Death in early 20s

27
Q

What tests can confirm DMD?

A

Raised CK

Muscle biopsy

28
Q

What is the difference between DMD and BMD?

A

BMD is milder

Death in 30s/40s

29
Q

What is the clinical name for clubfoot?

A

Talipes equinovarus

30
Q

What percentage of clubfoot cases are bilateral?

A

50%

31
Q

What movement does the foot perform in clubfoot?

A

Supination

32
Q

Talipes equinovarus tends to affect (boys / girls).

A

boys

33
Q

What are some risk factors for developing talipes?

A

Breech birth

Family history

High amniotic fluid concentration

Hypermobility / skeletal dysplasia

34
Q

People with talipes are at higher risk of which paediatric condition?

A

DDH

35
Q

Which technique is used to treat talipes?

A

Ponseti technique

serial casting then boots and bar for 3-4 years

36
Q

What are some examples of limb malformations seen in children?

A

Missing / extra bones

Failure of separation of digits

Fusion of bones

37
Q

What is syndactyly?

A

Failure of digits to separate

usually 3rd/4th digits

38
Q

What is polydactyly?

A

Extra digit

amputated

39
Q

What is fibular hemimelia?

A

Missing fibula on one side

causes tibial/ankle deformity, limb shortening

severe cases require amputation

40
Q

Which bone is missing in radial club hand?

A

Ulna

41
Q

When is the brachial plexus most at risk of injury?

A

During birth

42
Q

Large babies are common with ___ mothers.

A

diabetic

43
Q

What are the two types of palsy associated with obstetric brachial plexus injury?

Which spinal nerves are involved?

A

Erb’s palsy (C5 & C6)

Klumpke’s palsy (C8 & T1)

44
Q

What posture is associated with Erb’s palsy?

A

Waiter’s tip posture

45
Q

What posture is associated with Klumpke’s palsy?

A

Flexed fingers

46
Q

What causes cerebral palsy?

A

Insult to immature brain before age of 3

47
Q

What can cause cerebral palsy?

A

Intrauterine injury

Hypoxia at birth

Meningitis before age of 3

48
Q

What is the presentation of cerebral palsy?

A

Many different variations

neuromuscular disease, limb weakness/spasticity/hypereflexia

learning difficulties

49
Q

types of CP (probably a neuro topic)

A
50
Q

treatment for CP

A
51
Q

What causes spina bifida?

A

Failure of posterior vertebral arches to fuse

52
Q

What is the name given to mild spina bifida?

A

Spina bifida occulta

53
Q

What are the signs of spina bifida occulta?

A

Birth mark / skin tag / fatty deposit / hairy patch at side of disease

54
Q

If spina bifida causes compression of the lumbar spine, which presentations may you see?

A

Pes cavus

Clawing of toes

Cauda equina syndrome

55
Q

What is the name for severe spina bifida?

A

Spina bifida cystica

56
Q

What herniates in spina bifida cystica?

A

Meninges

Nerve roots

57
Q

Can people with spina bifida cystica walk?

A

Usually not

58
Q

How is spina bifida cystica treated?

A

Closure of herniation within 48hrs

Scoliosis correction

Decompression of spinal cord

Foot surgery

59
Q

meningoceles and myelomeningoceles

A
60
Q

What type of infection is poliomyelitis?

A

Viral infection

61
Q

How does poliovirus enter the body?

A

Faecal / oral route

62
Q

What causes limb paralysis in poliomyelitis?

A

Infection of anterior horn of spinal cord

MSK Week 4 2017/18 (10 decks)

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