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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
Which gene is affected in DMD? What does it control?
**Dystrophin** Calcium transport - essential for muscle contraction
26
What is the presentation of DMD?
**Progressive muscle weakness** **Scoliosis** **Cardiac and resp. failure** **Death in early 20s**
27
What tests can confirm DMD?
**Raised CK** **Muscle biopsy**
28
What is the difference between DMD and BMD?
**BMD is milder** **Death in 30s/40s**
29
What is the clinical name for clubfoot?
**Talipes equinovarus**
30
What percentage of clubfoot cases are bilateral?
**50%**
31
What movement does the foot perform in clubfoot?
**Supination**
32
Talipes equinovarus tends to affect (boys / girls).
**boys**
33
What are some risk factors for developing talipes?
**Breech birth** **Family history** **High amniotic fluid concentration** **Hypermobility / skeletal dysplasia**
34
People with talipes are at higher risk of which paediatric condition?
**DDH**
35
Which technique is used to treat talipes?
**Ponseti technique** serial casting then boots and bar for 3-4 years
36
What are some examples of limb malformations seen in children?
**Missing / extra bones** **Failure of separation of digits** **Fusion of bones**
37
What is **syndactyly**?
**Failure of digits to separate** usually 3rd/4th digits
38
What is **polydactyly**?
**Extra digit** amputated
39
What is **fibular hemimelia**?
**Missing fibula** on one side causes tibial/ankle deformity, limb shortening severe cases require amputation
40
Which bone is missing in **radial club hand**?
**Ulna**
41
When is the brachial plexus most at risk of injury?
**During birth**
42
Large babies are common with ___ mothers.
**diabetic**
43
What are the two types of palsy associated with obstetric brachial plexus injury? Which spinal nerves are involved?
**Erb's palsy** (C5 & C6) **Klumpke's palsy** (C8 & T1)
44
What posture is associated with Erb's palsy?
**Waiter's tip posture**
45
What posture is associated with Klumpke's palsy?
**Flexed fingers**
46
What causes **cerebral palsy**?
**Insult to immature brain before age of 3**
47
What can cause cerebral palsy?
**Intrauterine injury** **Hypoxia at birth** **Meningitis before age of 3**
48
What is the presentation of cerebral palsy?
**Many different variations** neuromuscular disease, limb weakness/spasticity/hypereflexia learning difficulties
49
types of CP (probably a neuro topic)
50
treatment for CP
51
What causes **spina bifida**?
**Failure of posterior vertebral arches to fuse**
52
What is the name given to **mild** spina bifida?
**Spina bifida occulta**
53
What are the signs of spina bifida occulta?
**Birth mark / skin tag / fatty deposit / hairy patch** at side of disease
54
If spina bifida causes compression of the lumbar spine, which presentations may you see?
**Pes cavus** **Clawing of toes** **Cauda equina syndrome**
55
What is the name for **severe** spina bifida?
**Spina bifida cystica**
56
What **herniates** in spina bifida cystica?
**Meninges** **Nerve roots**
57
Can people with spina bifida cystica walk?
**Usually not**
58
How is spina bifida cystica treated?
**Closure of herniation within 48hrs** **Scoliosis correction** **Decompression of spinal cord** **Foot surgery**
59
meningoceles and myelomeningoceles
60
What type of infection is **poliomyelitis**?
**Viral infection**
61
How does poliovirus enter the body?
**Faecal / oral route**
62
What causes limb paralysis in poliomyelitis?
**Infection of anterior horn of spinal cord**

MSK Week 4 2017/18 (10 decks)

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