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my MSK > Congenital and neuromuscular conditions > Flashcards

Congenital and neuromuscular conditions Flashcards

1
Q

What is the aetiology of Osteogenesis imperfecta - Brittle Bone Disease? Other than bone deformities, what sign may be present?

A

Defect in the synthesis or organisation of Type I collagen

Blue sclera

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2
Q

What is the embryological source of all the connective tissue?

A

mesoderm

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3
Q

What is the mutation present in Marfan’s syndrome?

A

Fibrillin gene mutation

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4
Q

What are the features of patients with Marfan’s?

A 
Very tall
long fingers
hypermobile joints
Pectus excavatum (flat chest)
Aortic aneurism
Cardiac valve incompetence
Spontaneous pneumothroax
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5
Q

Ehlers-Danlos syndrome is caused by what?

A

defects of genes for collagen and elastin formation

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6
Q

What are the features of the Ehlers-Danlos syndrome?

A

joint hypermobility and dislocation
flexible skin
osteoarthritis
cardiac abnormalities

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7
Q

Duchenne Muscular Dystrophy affects females only (T/F)

A

Males only

-X-linked recessive

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8
Q

What is the gene affected in Duchenne muscular dystrophy?

A

dystrophin calcium transport gene

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9
Q

What are the clinical characteristics of Duchenne muscular dystrophy?

A

progressive muscle weakness, with age
progressive scoliosis
Gowers sign on rising (stands up from all fours pushing himself up with hands)

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10
Q

What bones are abnormally aligned in Talipes Equinovarus? What are the patients at higher risk of?

A

Clubfoot
talus, calcaneous and navicular

DDH (developmental displasia of hip)

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11
Q

What is the treatment for Talipes Equinovarus (clubfoot)?

A

(Ponseti method

  • Manipulation and casting
  • alter foot position and set with progressively different casts
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12
Q

What is the cause of cerebral palsy?

A

damage to brain before 3 years of age

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13
Q

What are the 4 types of cerebral palsy?

A

spastic (motor cortex)
athetoid (uncontrolled writhing)
dystonic (repetitive movements)
ataxic (cerebellum)

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14
Q

What is spina bifida? What can be a sign noticed on examination?

A

failure of fusion of posterior vertebral arch

a hairy path or fatty lump on the back

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15
Q

What symptoms can be caused by spina bifida?

A

loss of bowel and bladder control
high arched foot
clawing of toes

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16
Q

What is spina bifida Myelomeningocele?

A

Spinalc cord contents herniates into a skin pouch

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17
Q

What is the site affected by Polio?

A

Viral infection of anterior horn cells in spinal cord or brainstem

18
Q

What is the most common expression of Cerebral palsy? What’s the clinical picture?

A

Spastic CP

-weakness and spasticity worsening with age

19
Q

Ataxic cerebral palsy reduces _____ and ______

A

co-ordination and balance

20
Q

Athetoid cerebral palsy is characterised by…

A

uncontrolled writhing motion, difficulties controlling speech

21
Q

What drugs are used in treatment of cerebral palsy?

A

Baclofen (reduces spasticity)

Botox (inject into spastic muscles)

22
Q

What are the 3 types of spina bifida (mild to severe)?

A

Spina bifida occulta

Spina bifida Meningocele (herniation of meninges alone)

Spina bifida Myelomeningocele (spinal cord / cauda equina herniation)

23
Q

What is fibular hemimelia?

A

partial or complete absence of the fibula

24
Q

What is a common mechanism of Brachial Plexus Palsy development?

A

Compression of the shoulder on the pubiic symphysis during vaginal delivery

25
Q

What nerve roots are damaged in Erb’s brachial plexus palsy? What muscles are affected?

A

C5 and C6

Supraspinatus
Infraspintaus
Deltoid
Biceps brachii
Brachialis
26
Q

What is the classic presentation of Erb’s palsy?

A

‘waiter’s tip posture’

  • internal rotation of the humerus
  • action of subscapularis is unopposed
27
Q

What brachial plexus roots are damaged in Klumpke’s palsy? What is the classic upper limb position?

A

C8 and T1

Flexed arm at the elbow
Wrist dorsiflexed

28
Q

The mechanism of injury leading to Klumpke’s palsy is damage to the brachial plexus caused by forceful abduction of the arm (T/F)

A

False

Forceful adduction

29
Q 
Developmental milestones.
Sits alone - 
Stands - 
Walks  -
Jumps - 
Climbs stairs -
A 
Sits alone - 6-9 months
Stands - 8-12 months
Walks  -14-17 months
Jumps - 24 months
Climbs stairs - age 3
30
Q

Varus knees at birth are abnormal and require correction (T/F)

A

False

normal

31
Q

Blounts’s disease is a disroder in growth at the medial proximal tibial physis, resulting in ____ _____

A

genu varum

32
Q

How can rigid flat feet be confirmed? What does it indicate?

A

Stand on toes - flexible flat feet produce a medial arch

Tarsal coalition

33
Q

Ortolani and Barlow manoeuvres are both used for detection of DDH (developmental displasia). What are they?

A

Ortolani manoeuvre

  • reduces a dislocated hip
  • abduct and anteriorly displace thigh

Barlow manoeuvre

  • attempt to dislocate
  • flex and posteriorly displace hip
34
Q

What treatment is used for dislocated or persistently unstable hips in newborns?

A

Pavlik harness

-flexes and abducts hips, ensuring reduction

35
Q

In Perthes, the femoral head transiently loses its blood supply (T/F)

A

True

-necrosis and abnormal growth may follow

36
Q

What’s a typical presentation of Perthes?

A

V. active boys, 4-9 years old, with hip pain and a limp

-loss of internal rotation may be the first clinical sign

37
Q

What is SUFE? Whom does it normally affect?

A

slipped upper femoral epiphysis

Overweight adolescent boys

38
Q

Other than groin pain, where else can pain present in SUFE?

What is the main clinical sign?

A

knee
-in some cases it’s only knee pain

Loss of internal rotation

39
Q

What is the treatment of SUFE?

A

pinning of the femoral head to prevent further slippage

-may need to be performed bilaterally

40
Q

What is the cause of Talipes Equinovarus? How does it present?

A

-unequal alignment of joints between the calcaneous, talus and navicular.

Clubfoot

41
Q

Other than the Ponseti technique (serial casting of the foot), what other procedure may be required in the treatment of Talipes Equinovarus (clubfoot)?

A

Tenotomy of the Achilles tendon

-boots attached with a bar worn during sleep until age 3/4

my MSK (55 decks)

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