Peds Myopathies

Question 1

What does a failed screen in a child mean and why do we perform developmental screens?

Answer 1

Failed screen indicates a work up

Sooner we identify a problem, sooner we intervene, the better the outcome

Question 2

What are the 4 domains of development?

Answer 2

Gross motor
Fine motor
Language
Cognitive/social/emotional/behavior

Question 3

When do we say a child has a delay with the DDST2?
What is a fail?
What is a caution?

Answer 3

A delay is indicated when a child fails or refuses an item that falls completely to the left of the age line

a fail is an item that 90% of children in the sample passed at an earlier stage

A caution is when the line falls between 75 and 90% and child fails or refuses

Question 4

When interpreting the DDST, what is considered a normal test result and what is suspect?

Answer 4

Normal: no delays and a maximum of 1 caution
Suspect: two or more cautions and/or one or more delays. Rescreen in 1-2 weeks

Question 5

What gross motor milestones should be met at the following ages?
1 at 6 months?
3 at 9 months?
1 at a year?
2 at 2 years?
1 at 3 years?
2 at 4 years
1 at 6 years?

Answer 5

Sits momentarily
Pulls up, cruises, sits without support
Stands momentarily 
Walks up stairs, kicks ball forward
Tricycle
Balance on one foot, hop on one foot
Skips

Question 6

What is the function of dystrophin?

Answer 6

Connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane

Question 7

What is the inheritance pattern for DMD and what type of mutation is it?
What is the most common form?
What is a high yield associated condition?

Answer 7

X linked recessive, frameshift mutation that causes a deletion of dystrophin
Childhood
Cardiomyopathy

Question 8

5 areas of body normally affected by DMD?

Answer 8

Neck, Chest, proximal arms, proximal legs, calf’s

Question 9

8 major clinical signs of DMD?

Answer 9

Calf and thigh muscles have hypertrophy first and then are replaced by fat and CT
Toe walking around 6
Limited hip flexion 
No more walking around 10
Compromised respiratory status 
Cardiomyopathy
Gastric hypomotility
Impaired intellectual ability

Question 10

What is the Gowers sign?

Answer 10

How DMD kids get up off floor to be able to stand

Question 11

Inheritance of Becker, mutation and difference from DMD?

Answer 11

X linked recessive
In frame mutation
Mild form

Question 12

Clinical presentation of congenital muscular dystrophies? 4 things?

Answer 12

Present at birth or shortly after
Hypotonia
Severe muscle weakness, proximal to distal
Joint contractures

Question 13

What is the cause of mitochondrial disorders and what 3 areas of the body are most commonly affected?

Answer 13

Mitochondrial or nuclear DNA mutations

Heart, brain, skeletal muscle

Question 14

Inheritance and mutation of glycogen storage disorder type 2 or POMPE?
5 common presenting signs?

Answer 14

AR, mutation in a-glucosidase 
Generalized weakness and hypotonia
Hypertrophic cardiomyopathy
Respiratory failure
Feeding problems 
Hearing loss

Question 15

What is the mutation in myotonia congenita?

Answer 15

Mutations of the chloride channel CLCN1 gene

Question 16

Explain what periodic paralysis is and the two types?

Answer 16

Repeated episodes of flaccid paralysis of the 4 limbs
Hypokalemic, associated with mutations in calcium and sodium channels and after exercise
Hyperkalemic, associated with sodium channel mutations or eating potassium rich foods

Question 17

Juvenile dermatomyositis is the most common what?

4 clinical features?

Answer 17

Idiopathic inflammatory myopathy in kids
Proximal muscle weakness
Purple rash on upper eyelids
Grotten papules
Thrombi or bleeds in periungal cap beds

Question 18

Statins cause what type of muscle damage and what are 3 clinical signs?

Answer 18

Necrotizing and inflammatory myopathy

Weakness, pain, and tenderness

Question 19

Big difference between congenital myasthenia syndrome and m gravis?

Answer 19

Congenital does not involve antibodies

Question 20

What is more concerning of a child that not hitting developmental milestones?

Answer 20

Hitting milestones but then regressing

Question 21

Two imaging modalities for RA and why?

Answer 21

X ray to detect symmetrical involvement of hands and feet

CT for bony abnormalities and erosions