Clinical Approach to Myopathies in Children

Question 1

A _ assessment is preformed at every well child visit

Answer 1

developmental

Question 2

a developmental screening or a screening of any type is not _

Answer 2

diagnostic

• failed/concerning screening test is an indication for a more thorough evaluation

Question 3

development milestones allow for you to see if a child is “keeping up” with what is expected; success can be celebrates and delays can be discussed and plans for _ are made

Answer 3

interventions

Question 4

developmental milestones/screens allow for what 2 things

Answer 4

parents/caretakers to become educated on what their children can do and will soon be able to do and also show them that thee is a range of normal when it comes to development

Question 5

what are the 4 domains of pediatric development

Answer 5

gross motor

fine motor

language

persona/social/cognitive/emotional/intelectual

Question 6

describe the gross motor domain of pediatric development

Answer 6

movement involving the large muscles like supporting the head, rolling over, sitting up/walking

• most important domain when it comes to myopathies

Question 7

describe fine motor domain of pediatric development

Answer 7

movements involving the hands and smaller muscles that are necessary for daily living skills like reaching and holding objects, writing, stacking, drawing

Question 8

describe the language domain of pediatric development

Answer 8

being receptive to what is said, being expressive and talking, and both verbal and non verbal communication is assessed

Question 9

describe the personal/social/cognitie/emotional/intellectual domain of pediatric development

Answer 9

assessment of attachment to others, self regulation, interaction with others

Question 10

evidence shows that the earlier a developmental deficit is identified and the earlier an intervention is made, the _ the outcome

Answer 10

Better

Question 11

not meeting a developmental milestone is concerning but what is more concerning

Answer 11

losing developmental skills that had already been achieved

Question 12

when milestones that have been achieved begin to disappear be very concerned , think _ disease

(was feeding self now can’t, was walking now can’t)

Answer 12

progressive

Question 13

hold chin up when in prone position -what age-

Answer 13

2 months

Question 14

roll over from front to back - what age-

Answer 14

4 months

Question 15

sit briefly without support -what age-

Answer 15

6 months (at 9 months they can sit well without support)

Question 16

pull to standing holding on to something - what age-

Answer 16

9 months

Question 17

stand without any support - what age-

Answer 17

12 months

Question 18

run with coordination - what age-

Answer 18

2 years

Question 19

pedal tricycle - what age-

Answer 19

3 years

Question 20

climb stairs with alternating feet -what age-

Answer 20

3 years

Question 21

balance on one foot - what age-

Answer 21

4 years

Question 22

DDST-II (Denver developmental screening test) - what is it

Answer 22

screening tool that assesses the major 4 domains of development

• most parental questionnaires are based on the DDST-II
• preformed at every well child visit

Question 23

what is M-CHAT-R?

when is it adminstered?

Answer 23

modified checklist for autism in toddlers revised- focuses on the weak areas that are in the DDST- the personal/social and language domain

18-24 months of age

Question 24

children with autism of another diagnosis under the umbrella of pervasive developmental delay struggle with _ and _ with their environment

Answer 24

communication and interaction with their environment

Question 25

weakness

Answer 25

decreased ability to voluntarily and actively move muscles against resistance

Question 26

hypotonia

Answer 26

decrease muscle tone

Question 27

muscle tone can be defined as?

Answer 27

the resistance the examiner feels to externally imposed movements when the patient is in a relaxed state when they are not trying to resist being moved

Question 28

if hypotonia exists in the absence of weakness think

Answer 28

neuro involvement

Question 29

what is the most common severe childhood form of Muscular dystrophy

Answer 29

DMD (Duchenne muscular dystrophy)

Question 30

inheritance of DMD

Answer 30

X linked recessive inheritance frame shift mutation in the dystrophin gene dystrophin is totally absent or totally non-functional

Question 31

pathogenesis of DMD

Answer 31

dystrophin occurs nearly everywhere in the body and without it muscle membranes tear, necrosis occurs, and fibrosis develops

Question 32

clinical presentation of DMD

Answer 32

symmetrical proximal muscle weakness no antigravity neck flexion strength delayed walking/running (cant keep up with their peers) waddling gait gowers signs gross motor domains fail to be met as progressive milestones around the age of 2 progresses rapidly ): pesudohypertrophy of the calf and thigh cognitive impairement wheelchair by 10 cardiomyopathy, respiratory problems, die in twenties

Question 33

_ at the time of diagnosis of DMD is extremely elevated

Answer 33

CK

Question 34

treatment of DMD in children

Answer 34

steroids

Question 35

what is Becker muscular dystrophy

Answer 35

x linked recessive it is an inflame mutation of the dystrophin gene usually just truncated less severe than DMD

Question 36

clinical symptoms of BMD

Answer 36

symmetric proximal muscle weakness neck flexion strength is preserved! later in life presentation, slow progression life expectancy to 6th decade

Question 37

treatment of BMD

Answer 37

steroids

Question 38

Gower maneuver is a sign of severe ?

Answer 38

proximal muscle weakness

Question 39

what is present at birth or early in infancy in a congenital muscular dystrophy

Answer 39

hypotonia , severe symmetric muscle weakness that starts proximal and then moves distally, joint conjectures, may have malformations of eyes/brain

Question 40

genetics of CMD (congenital muscular dystrophy)

Answer 40

most are autosomal recessive that involve structural proteins of the ECM (more common than Intracellular matrix defects) **can be Merosin positive or Mersin negative

Question 41

describe the inheritance pattern of glycogen storage disorder type 2 (pompe disease) **mutation in what

Answer 41

autosomal recessive with alpha glucosidase gene mutations that result in decreased enzyme activity and the buildup of glycogen in the lysosomes of cells in particular muscle

Question 42

what is the clinical presentation of pompe disease (glycogen storage disease type 2)

Answer 42

weakness and hypotonia EARLY Cardiomyopathy (can have heart failure 18months) respiratory issues feeding problems

Question 43

treatment for pompe disease

Answer 43

enzyme therapy replacement

Question 44

what is juvinelle dermatomyositis?

Answer 44

the most common idiopathic myopathy in children it is systemic and autoimmune with both cellular and humoral immunity involved

Question 45

mean age for JDM (juvinelle dermatomyositis)

Answer 45

7

Question 46

clinical findings of JDM

Answer 46

symmetric muscle weakness (proximal more often), helitrope rash with periorbital edema, gottrons papules , thrombi or hemorrhages in the peri-fungal beds

Question 47

why is creatine kinase measurements important in patients with suspected myopathies

Answer 47

elevated CK is an indicator of muscle damage **highest in skeletal muscle

Question 48

explain how measurement of serum GGT (gamma glutamic transferase) can be helpful in the lab work up of patients with a suspected myopathy

Answer 48

GGT is highest in the liver so its its elevated then think liver if not think muscle most of the other enzymes located in the liver are also in the muscle for ALT, AST, aldolase, and LDH could all be elevated in a muscle disorder.