[CLMD] Pediatric Myopathies [Newman]

Question 1

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

Answer 1

Simply an indication for a more thorough evaluation

Question 2

Name the four general domains of pediatric development.

Answer 2

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

Question 3

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

Answer 3

The better the outcome

Question 4

What is the named of the autism screen in 18m to 24mo?

Answer 4

M-CHAT-R

Modified checklist for Autism in toddlers revised

Question 5

What milestone should be met by 2 months of age?

Answer 5

hold chin up when in the prone position

Question 6

What milestone should be met at 4 months of age?

Answer 6

Rolle over from front to back

Question 7

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

Answer 7

Sits momentarily

Question 8

What developmental milestone should be met by 9 months?

Answer 8

Pull to stand

Question 9

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

Answer 9

Stands momentarily

Question 10

What developmental milestone should be met by 2 years old?

Answer 10

Run with coordination

Question 11

What (2) gross motor skills should be aquired by 3 years old?

Answer 11

1. Pedal Tricycle
2. Climb stairs with alternating feet

*Remember, by age 3 can use a tricycle which also has 3 tires

*Also remember, by three, tries to climb stairs

Question 12

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

Answer 12

Balance on one foot

Question 13

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

Answer 13

Myopathy

Question 14

Why is Duchenne Muscular Dystrophy the most severe?

Answer 14

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

Question 15

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

Answer 15

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

Question 16

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

Answer 16

• Cardiomyopathy, muscle weakness, or muscle cramps
• May have ↑ CK

Question 17

When do congenital muscular dystrophies present and how?

Answer 17

• 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

Question 18

What is the inheritance pattern of becker muscular dystrophy?

Answer 18

x-linked recessive

Question 19

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

Answer 19

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

Question 20

What is the most common idiopathic inflammatory myopathy in children?

Answer 20

Juvenile dermatomyositis

Question 21

What is the clinical presentation of Juvenile Dermatomyositis?

Answer 21

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

Question 22

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

Answer 22

• If elevated = think liver
• If normal = think muscle

Question 23

Statins can cause what type of myopathy?

Answer 23

Necrotizing and inflammatory myopathy: muscle weakness + pain + tenderness