Clin: Pediatric Myopathies Flashcards

1
Q

A failed developmental status screen during a well child visit is an indiciation for what?

A

Simply and indication for a more thorough evaluation

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2
Q

Name the four general domains of pediatric development.

A
  • Gross motor
  • Fine motor
  • Language
  • Cognitive/Social-Emotional and Behavioral
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3
Q

Explain the importance of early intervention in children with developmental delay.

A

The better the outcome

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4
Q

Which gross motor milestone should be reached by 6 months old?

A

Sits momentarily

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5
Q

Which 3 gross motor milestones should be reached by 9 months old?

A
  • Pulls up
  • Cruises
  • Sits well without support
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6
Q

Which gross motor milestone should be reached by 1 year old?

A

Stands momentarily

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7
Q

Which 2 gross motor milestone should be reached by 2 years old?

A
  • Walks up stairs
  • Kicks ball forward
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8
Q

Which 2 gross motor milestone should be reached by 4 years old?

A
  • Balance on one foot (1-3 sec.)
  • Hop on one foot
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9
Q

Which gross motor milestone should be reached by 6 years old?

A

Skipping

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10
Q

A muscle disease unrelated to any disorder of innervation or neuromuscular junction describes what?

A

Myopathy

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11
Q

Why is Duchenne Muscular Dystrophy the most severe?

A

Out-of-frame (frameshift) mutations disrupt the reading frame = absence of muscle dystrophin

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12
Q

What is the inheritance pattern of Duchenne Muscular Dystrophy and how does this affect the sons + daughters of a carrier mother?

A
  • X-linked recessive
  • Sons have a 50% chance of having DMD
  • Daughters have a 50% chance of being carriers
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13
Q

Girls who are carriers of DMD mutations may develop what complications?

A
  • Cardiomyopathy, muscle weakness, or muscle cramps
  • May have ↑ CK
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14
Q

When do congenital muscular dystrophies present and how?

A
  • At birth or shortly thereafter
  • Hypotonia + severe muscle weakness (prox. > distal)
  • Joint contractures
  • May present w/: malformations of eyes or brain, cardiomyopathy, or rigid spine
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15
Q

What is the inheritance pattern of glycogen storage disroder type 2 (Pompe disease); what type of mutation is the cause?

A
  • Autosomal recessive; due to alpha-glucosidase gene mutation
  • Leads to build-up of glycogen in lysosomes of cells, especially muscle
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16
Q

What is the most common idiopathic inflammatory myopathy in children?

A

Juvenile dermatomyositis

17
Q

What is the clinical presentation of Juvenile Dermatomyositis?

A
  • Red or purplish heliotrope rash over eyelids
  • Raised erythematous papules over the extensor joint surfaces (Gottren papules)
  • Thrombi or hemorrhage in periungal capillary beds
18
Q

Explain the importance of GGT levels in differentiating between muscle disease and liver disease.

A
  • If elevated = think liver
  • If normal = think muscle
19
Q

Statins can cause what type of myopathy?

A

Necrotizing and inflammatory myopathy: muscle weakness + pain + tenderness