Pediatric Myopathies

Question 1

What are the 4 domains of pediatric development?

Answer 1

Gross motor, fine motor, language, cognitive/social (emotional and behavioral)

Question 2

What is the gross motor domain of development?

Answer 2

Movements involving large muscles including supporting the head, rolling over, sitting up, walking, running, etc; the msot important domain when talking about myopathies

Question 3

What is the fine motor domain of development?

Answer 3

Movements using the hands and smaller muscles; necessary for daily living skills such as reaching for objects, holding objects, writing, stacking, drawing, etc

Question 4

What is the language domain of development?

Answer 4

Receptive: understanding what is being said;; expressive: talking; both verbal and nonverbal communication

Question 5

What is the cognitive/social domain of development?

Answer 5

Attachment to others, self regulation and interaction with others

Question 6

What is the importance of early intervention in children with developmental delays?

Answer 6

The earlier the developmental deficit is ID’ed and the earlier an intervention is made, the better the outcome

Question 7

What is the significance of developmental regression in a child?

Answer 7

Not meeting developmental milestones is concerning, but losing developmental skills that had already been achieved is even more concerning (think progressive disease)

Question 8

When is a child able to hold their chin up when in the prone position?

Answer 8

2 months

Question 9

When is a child able to roll over front to back?

Answer 9

4 months

Question 10

When is a child able to sit briefly w/o support?

Answer 10

6 months

Question 11

When is a child able to pull to stand?

Answer 11

9 months

Question 12

When is a child able to stand w/o support?

Answer 12

12 months (standing may be brief)

Question 13

When is a child able to run with coordination?

Answer 13

2 years

Question 14

When is a child able to pedal a tricycle?

Answer 14

3 years

Question 15

When is a child able to climb stairs with alternating feet?

Answer 15

3 years

Question 16

When is a child able to balance on one foot?

Answer 16

4 years

Question 17

What is the DDST-II (Denver Developmental Screening Test)?

Answer 17

Assesses the 4 major domains of development; some form of assessment usually based on the DDST-II is performed at every well child visit

Question 18

What is the M-CHAT-R (modified checklist for autism in toddlers)?

Answer 18

Administered at 18 and 24 months of age; focuses on areas where the DDST is known to be weak (the personal-social and language domain); not important for myopathies

Question 19

What is weakness?

Answer 19

Decreased ability to voluntarily and actively move muscles against resistance

Question 20

What is hypotonia?

Answer 20

Decreased muscle tone (can exist in the absence of weakness and if so think neuro involvement)

Question 21

What is the Gower manuever a sign of?

Answer 21

Severe proximal muscle weakness

Question 22

What is the clinical presentation of congenital muscular dystrophies (CMD)?

Answer 22

Present at birth or in early infancy; hypotonia, severe symmetric muscle weakness (proximal>distal) at birth or shortly after, joint contractures present; may present with malformations of the eyes/brain or cardiomyopathy

Question 23

What are the genetics of CMD?

Answer 23

Almost all are AR; the defect involves structural proteins of hte ECM (MC) or ICM; sometimes classified as merosin-positive or negative

Question 24

What are the genetics for glycogen storage disorder type 2 (Pompe disease)?

Answer 24

AR; alpha-glucosidase gene mutations resulting in decreased enzyme activity; build up of glycogen in the lysosomes of cells (especially M)

Question 25

What is the clinical presentation for Pompe dz?

Answer 25

Generalized weakness and hypotonia early in life, cardiomyopathy (HF by 18 mo in severe cases), respiratory issues, feeding difficulty; can present later in life also

Question 26

What is juvenile dermatomyositis?

Answer 26

The MC acquired idiopathic myopathy in children; systemic, auto immune (cellular and humoral immunity involved)

Question 27

What is the clinical presentation of juvenile dermatomyositis (JMD)?

Answer 27

Mean onset 7yo; generalized symmetric muscle weakness (proximal>distal), heliotrope rash with periorbital edema, Gottron’s papules, thrombi or hemorrhage in the peri-ungal beds

Question 28

Elevated serum creatine kinase is usually an indicator of what?

Answer 28

Muscle damage; some myopathies present with extremely elevated CK while others may be minimal; CK activity is the highest in SKM

Question 29

If GGT (gamma glutamyl transferase) levels are elevated what should you think of?

Answer 29

Liver issues

Question 30

If GGT levels are normal, what should you think of?

Answer 30

Problem in muscle