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NMSP Exam 2 > Pediatric Myopathies > Flashcards

Pediatric Myopathies Flashcards

1
Q

what is a developmental milestone assessment?

A

determines if a child is keeping up with expected milestones

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2
Q

what does a failed milestone assessment mean?

A

a more thorough evaluation is needed

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3
Q

what are the 4 domains of pediatric development?

A

gross motor
fine motor
language
cognitive/social/behavioral

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4
Q

what is the importance of intervention with developmental delays?

A

the earlier the intervention, the better the outcome

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5
Q

what does it mean if a child has achieved a milestone, but then it regresses?

A

very concerning! think progressive disease

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6
Q

2 month old milestone

A

hold chin up in prone position

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7
Q

4 month old milestone

A

roll over

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8
Q

6 month old milestone

A

sit briefly without support

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9
Q

9 month old milestone

A

pull to stand

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10
Q

12 month old milestone

A

stand without support

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11
Q

2 year old milestone

A

run with coordination

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12
Q

3 year old milestones

A

pedal tricycle

climb stairs with alternating feet

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13
Q

4 year old milestone

A

balance on one foot

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14
Q

what is the DDST-II?

A

denver developmental screening test

assesses the 4 major domains of development

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15
Q

what is the M-CHAT-R?

A

modified checklist for autism in toddlers

given at 18 m/o and 24 m/o

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16
Q

what is weakness?

A

decreased ability to voluntarily and actively move muscles against resistance

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17
Q

what is hypotonia?

A

decreased muscle tone

can occur with or without weakness

*think neuro involvement

18
Q

what is duchenne muscular dystrophy?

A

X-linked recessive mutation in the dystrophin gene

absent or non-functional dystrophin

results in diffuse muscle membrane tears, necrosis and fibrosis

19
Q

what is the clinical presentation of DMD?

A 
symmetric proximal muscle weakness
no neck flexor strength
delayed walking/running/keeping up with peers
waddling gait with exaggerated lordosis
scoliosis
cognitive dysfunction
gower's sign
20
Q

at what age does DMD typically present?

A

1.5-2 y/o

21
Q

when do DMD patients lose their ability to walk?

A

by 9-10 y/o

22
Q

what is the life expectancy of DMD?

A

late teens to mid-20s

23
Q

what are possible CoD in DMD patients?

A

compromised respiratory status
cardiomyopathy
gastric hypo-mobility

24
Q

what will you see on labs in DMD?

A

elevated CK

25
Q

what is the treatment for muscular dystrophy?

A

steroids can help but not cure both forms

26
Q

which form of MD is more common?

A

DMD

27
Q

what is becker muscular dystrophy?

A

x-linked recessive mutation in dystrophin gene

production of abnormal or semi-functional dystrophin

same pathogenesis as DMD but less severe

28
Q

what is the clinical presentation of BMD?

A

symmetric proximal muscle weakness
neck flexors preserved
cognitive function preserved

29
Q

at what age does BMD typically present?

A

not earlier than 5 y/o

30
Q

when do BMD patients lose their ability to walk?

A

20s or later

31
Q

what is the life expectancy of BMD?

A

40s-60s

32
Q

what will you see on labs in BMD?

A

elevated CK but not as high as DMD

33
Q

what is the Gower maneuver and what is its clinical significance?

A

child goes from laying flat on the stomach to standing upright in a sequence of postures

sign of severe proximal muscle weakness

34
Q

what is the clinical presentation of congenital muscular dystrophies?

A

hypotonia and severe symmetric muscle weakness present at birth or during infancy

joint contractures often present

possible brain/eye malformation or cardiomyopathy

35
Q

what is the inheritance of CMD?

A

AR mutation in structural proteins of the extracellular or intracellular matrix

36
Q

what is Pompe disease?

A

glycogen storage disorder type 2

AR mutation in the alpha-glucosidase gene

build-up of glycogen in lysosomes

37
Q

what is the clinical presentation of Pompe disease?

A

generalized weakness and hypotonia
cardiomyopathy
respiratory issues
feeding difficulty

38
Q

what is the treatment for Pompe disease?

A

enzyme therapy

39
Q

what is juvenile dermatomyositis?

A

the most common acquired idiopathic myopathy in children

autoimmune systemic disease with onset at 7 y/o

40
Q

what are the clinical findings of juvenile dermatomyositis?

A

generalized symmetric muscle weakness
heliotrope rash with periorbital edema
Gottrons papules
thrombi or hemorrhage in peri-ungal beds

41
Q

if many enzymes are elevated, what lab value can be helpful in determining the etiology in patients with suspected myopathy?

A

serum GGT

elevated = liver
normal = muscle

NMSP Exam 2 (14 decks)

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