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Paediatrics > 3: Neurology - Muscular dystrophies > Flashcards

3: Neurology - Muscular dystrophies Flashcards

1
Q

What are muscular dystrophies

A

Group of progressive disorders affecting musculoskeletal system

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2
Q

What are the three types of muscular dystrophies

A
  • Duchenne
  • Becker’s
  • Limb-Girdle
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3
Q

In which gender do muscular dystrophies occur and why

A

Males

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4
Q

What is the inheritance pattern of muscular dystrophies

A

X-linked recessive

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5
Q

What causes muscular dystrophy

A

Mutation in dystrophin gene

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6
Q

What type of mutation is present in duchenne muscular dystrophy

A

Frameshift

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7
Q

What type of mutation is present in becker’s muscular dystrophy

A

Point mutation

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8
Q

What age does duchenne muscular dystrophy occur

A

onsets 2-5 years

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9
Q

Where is weakness in duchenne muscular dystrophy

A

Proximal muscles

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10
Q

How will gait present in duchenne muscular dystrophy

A

Waddling

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11
Q

What are two signs seen in duchenne muscular dystrophy

A
  • Calf pseudo hypertrophy

- Gower’s manoeuvre

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12
Q

What is Gower’s manoeuvre

A

Individual uses their hands to walk themselves up their legs to standing

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13
Q

Why does calf pseudo hypertrophy occur

A

Replacement calf-muscle with fat

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14
Q

What is an early sign of duchenne muscular dystrophy

A

Delayed gross motor milestone - difficulty walking

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15
Q

What is duchenne muscular dystrophy associated with

A

Cognitive impairment

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16
Q

What is main cause of death in duchenne muscular dystrophy

A
  • Respiratory failure

- Dilated cardiomyopathy

17
Q

What is Becker’s muscular dystrophy

A

Presents similarly to duchenne muscular dystrophy however onsets after 15-years and is milder

18
Q

Explain progression in Becker’s muscular dystrophy

A

Milder and slower progression

19
Q

What is a more common association with Becker’s muscular dystrophy

A

Heart defects

20
Q

What is the role of the dystrophin protein

A

Holds cytoskeleton to ECM

21
Q

What happens in muscular dystrophy

A

Disruption in dystrophin causes muscle-cell necrosis which results in replacement with fat - causing it to appear large = pseudohypertrophy

22
Q

What is first-line for duchenne muscular dystrophy

A

Creatinine Kinase (CK)

23
Q

What is second-line for DMD

A

Genetic analysis

24
Q

When may a muscle biopsy be performed

A

Genetic analysis inconclusive

25
Q

How will muscle biopsy present in DMD

A

Absent dystrophin

26
Q

How will muscle biopsy present in BMD

A

Reduced dystrophin

27
Q

How is DMD managed during the early-stages

A
  • Physio
  • Orthoses
  • Corticosteroids
  • Vitamin D and Calcium supplements
28
Q

What is the advantage of corticosteroids

A

Prolongs survival

29
Q

What are individuals given in late-stage to aid with mobility

A

Electric wheelchair

30
Q

What respiratory parameters should be monitored in DMD

A

Vital capacity

31
Q

What is given to manage respiratory function in DMD

A

Non-invasive ventilation

32
Q

What is offered from cardiology for DMD

A

Screening every 6-months

33
Q

What may be seen on cardiac screening in DMD

A

Dilated cardiomyopathy

34
Q

What is prognosis of DMD

A

Often survive until 20’s, due to respiratory failure

35
Q

What are complications of DMD

A
  • Contractures
  • Resp Failure
  • GI: pseudoobstruction
  • Progressive failure resp muscles

Paediatrics (61 decks)

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