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Paediatrics > Muscular Dystrophy > Flashcards

Muscular Dystrophy Flashcards

1
Q

What is muscular dystrophy?

A

Umbrella term for genetic conditions that cause gradual weakening and wasting of muscles

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2
Q

What sign is common in muscular dystrophy?

A

Gower’s sign

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3
Q

What is Gower’s sign?

A

Technique children with proximal muscle weakness use to stand up

  1. get onto hands and knees
  2. push hips up and backwards
  3. shift weight backwards + transfer hands to knees
  4. walk hands up to legs to stand
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4
Q

How is muscular dystrophy managed?

A

Maintain quality of life

MDT

  • medical team
  • physio
  • OT

Manage complications

  • breathing
  • feeding
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5
Q

What are the types of muscular dystrophy?

A 
Duchennes
Beckers
Myotonic dystrophy
Fascioscapulohumeral 
Oculopharyngeal
Limb-girdle
Emery-Dreifuss
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6
Q

What causes Duchennes muscular dystrophy?

A

Defective gne for dystrophin on X chromosone

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7
Q

What is the inheritance pattern of Duchennes muscular dystrophy?

A

X-linked recessive

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8
Q

What is the presentation of Duchennes muscular dystrophy?

A

Present at 3-5 years old
Pelvic weakness
Progressive weakness

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9
Q

How is Duchennes muscular dystrophy managed?

A

Oral steroids

Creatine

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10
Q

What causes Beckers muscular dystrophy?

A

Less severe dystrophin gene defection

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11
Q

What age do symptoms present in Beckers muscular dystrophy?

A

8-12 years

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12
Q

How is Beckers muscular dystrophy managed?

A

Oral steroids

Creatine

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13
Q

What age does myotonic dystrophy present?

A

Adulthood

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14
Q

What are features of myotonic dystrophy?

A

Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias

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15
Q

What age does fascioscapulohumeral muscular dystrophy present?

A

Childhood

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16
Q

What are the features of fascioscapulohumeral muscular dystrophy?

A

Weakness in face

Progresses to shoulders + arms

17
Q

What age does oculopharyngeal muscular dystrophy present?

A

Late adulthood

18
Q

What are features of oculopharyngeal muscular dystrophy?

A

Weakness of ocular muscles + pharynx

  • bilateral ptosis
  • restricted eye movements
  • swallowing problems
19
Q

What age does limb-girdle muscular dystrophy present?

A

Teenage years

20
Q

What are features of limb-girdle muscular dystrophy?

A

Progressive hip + shoulder weakness

21
Q

What age does Emery-Dreifuss muscular dystrophy present?

A

Childhood

22
Q

What are features of Emery-Dreifuss muscular dystrophy?

A

Contractures
Progressive weakness
Proximal muscle weakness

Paediatrics (40 decks)

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