Pediatric Myopathies Flashcards by Christian Wakim

what is a developmental milestone assessment?

determines if a child is keeping up with expected milestones

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what does a failed milestone assessment mean?

a more thorough evaluation is needed

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what are the 4 domains of pediatric development?

gross motor
fine motor
language
cognitive/social/behavioral

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what is the importance of intervention with developmental delays?

the earlier the intervention, the better the outcome

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

very concerning! think progressive disease

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2 month old milestone

hold chin up in prone position

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4 month old milestone

roll over

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6 month old milestone

sit briefly without support

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9 month old milestone

pull to stand

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12 month old milestone

stand without support

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2 year old milestone

run with coordination

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3 year old milestones

pedal tricycle

climb stairs with alternating feet

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4 year old milestone

balance on one foot

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what is the DDST-II?

denver developmental screening test

assesses the 4 major domains of development

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what is the M-CHAT-R?

modified checklist for autism in toddlers

given at 18 m/o and 24 m/o

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what is weakness?

decreased ability to voluntarily and actively move muscles against resistance

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what is hypotonia?

decreased muscle tone

can occur with or without weakness

*think neuro involvement

what is duchenne muscular dystrophy?

X-linked recessive mutation in the dystrophin gene

absent or non-functional dystrophin

results in diffuse muscle membrane tears, necrosis and fibrosis

what is the clinical presentation of DMD?

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

at what age does DMD typically present?

1.5-2 y/o

when do DMD patients lose their ability to walk?

by 9-10 y/o

what is the life expectancy of DMD?

late teens to mid-20s

what are possible CoD in DMD patients?

compromised respiratory status
cardiomyopathy
gastric hypo-mobility

what will you see on labs in DMD?

elevated CK

what is the treatment for muscular dystrophy?

steroids can help but not cure both forms

which form of MD is more common?

DMD

what is becker muscular dystrophy?

x-linked recessive mutation in dystrophin gene production of abnormal or semi-functional dystrophin same pathogenesis as DMD but less severe

what is the clinical presentation of BMD?

symmetric proximal muscle weakness neck flexors preserved cognitive function preserved

at what age does BMD typically present?

not earlier than 5 y/o

when do BMD patients lose their ability to walk?

20s or later

what is the life expectancy of BMD?

40s-60s

what will you see on labs in BMD?

elevated CK but not as high as DMD

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

child goes from laying flat on the stomach to standing upright in a sequence of postures sign of severe proximal muscle weakness

what is the clinical presentation of congenital muscular dystrophies?

hypotonia and severe symmetric muscle weakness present at birth or during infancy joint contractures often present possible brain/eye malformation or cardiomyopathy

what is the inheritance of CMD?

AR mutation in structural proteins of the extracellular or intracellular matrix

what is Pompe disease?

glycogen storage disorder type 2 AR mutation in the alpha-glucosidase gene build-up of glycogen in lysosomes

what is the clinical presentation of Pompe disease?

generalized weakness and hypotonia cardiomyopathy respiratory issues feeding difficulty

what is the treatment for Pompe disease?

enzyme therapy

what is juvenile dermatomyositis?

the most common acquired idiopathic myopathy in children autoimmune systemic disease with onset at 7 y/o

what are the clinical findings of juvenile dermatomyositis?

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

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

serum GGT ``` elevated = liver normal = muscle ```