Clin - Pediatric Myopathies

Question 1

list and describe the four domains of pediatric development

Answer 1

gross motor: movements involving large muscles (supporting head, rolling over, sitting up, walking)

fine motor: movements using hands and smaller muscles (reaching for objects, holding things, writing)

language: receptive, expressive, and nonverbal

cognitive/social-emotional and behavioral

Question 2

what signs in a pediatric patient would make you think of progressive disease

Answer 2

when milestones that have been achieved begin to disappear

Question 3

state the age at which a normally developing child can be expected to exhibit the following gross motor skills:

• hold chin up when in prone position
• roll over from front to back
• sit briefly without support
• pull to stand

Answer 3

• hold chin up when in prone position: 2 months
• roll over from front to back: 4 months
• sit briefly without support: 6 months
• pull to stand: 9 months

Question 4

state the age at which a normally developing child can be expected to exhibit the following gross motor skills:

• stand without support
• run with coordination
• pedal tricycle
• climb stairs w/ alternating feet
• balance on one foot

Answer 4

• stand without support: 12 months
• run with coordination: 2 years
• pedal tricycle: 3 years
• climb stairs w/ alternating feet: 3 years
• balance on one foot: 4 years

Question 5

what is the DDST and what does it test for

Answer 5

denver developmental screening test

• assesses 4 main domains of development
• most parental questionnaires that pediatricians use are based on the DDST

Question 6

what is the M-CHAT-R and what does it test for

Answer 6

modified checklist for autism in toddlers-revised

• administered 18-24 months of age
• focuses on personal-social domain and language domain (the DDST does not)

Question 7

treatment for DMD and BMD

Answer 7

steroids

Question 8

clinical presentation of DMD

Answer 8

• symmetrical proximal muscle weakness
• broad based, waddling gate with exaggerated lordosis
• gower’s sign (how they get up from sitting)
• scoliosis
• calf and thigh muscle hypertrophy followed by pseudo-hypertrophy
• toe walking

Question 9

compare mutations between DMD and BMD

Answer 9

DMD: frameshift mutation

BMD: in-frame mutation

Question 10

clinical presentation BMD

Answer 10

• symmetrical proximal muscle weakness
• NO cognitive dysfunction (usually)
• independent walking until late teens or early 20s

Question 11

clinical presentation of congenital muscular dystrophies

Answer 11

present at birth or in early infancy with:

• hypotonia
• severe symmetric muscle weakness
• joint contractures

Question 12

what are the genetic causes of congenital muscular dystrophies

Answer 12

AR

defects involve structural proteins of the ECM

Question 13

what is the clinical presentation, inheritance pattern, and pathogenesis of Pompe dz

Answer 13

AR

alpha-glucosidase gene mutation –> build up of glycogen

• generalized weakness and hypotonia
• cardiomyopathy
• respiratory illness
• feeding difficulty

Question 14

clinical presentation juvenile dermatomyositis (JDM)

Answer 14

• generalized symmetrical muscle weakness (proximal > distal)
• heliotrope rash w/ periorbital edema
• grotton’s papules
• thrombi or hemorrhage in periungal beds

Question 15

when suspecting myopathy in a patient, how does measuring the GGT level help your ddx

Answer 15

GGT elevated –> liver

GGT normal –> muscle

(GGT is present in many organs but in high concentration in the liver)