Pediatric Myopathies (Newman) Flashcards
How often is a developmental screening performed?
at every child visit
What are the 4 domains of pediatric development?
gross motor
fine motor
language
personal/social/cognitive/emotional/intellectual
briefly define gross motor
movement involving large muscles; supporting head, rolling over, sitting up, walking and running; the most important domain when talking about myopathies
What is the most important domain in pediatric development in regards to myopathies?
gross motor; movement involving large muscles; supporting head, rolling over, sitting up, walking and running
briefly define fine motor
movements using the hands and smaller muscles; reaching for objects, holding objects and drawing
briefly define language
receptive; understanding
expressive; talking
verbal and nonverbal communication
Why is early intervention in children with developmental delays important
the EARLIER a developmental deficit is identified and intervention is made, the better the outcome
Significance of developmental regression in a child
losing developmental skills that have already been achieved is VERY concerning; i.e - child once able to feed themselves no longer can or a child who was once walking can no longer walk; think progressive disease
what age does a normally developing child be expected to hold their chin up when in the prone position?
2 months
what age does a normally developing child be expected to roll over from front to back?
4 months
what age does a normally developing child be expected to sit briefly without support?
6 months
what age does a normally developing child be expected to pull to stand holding onto something?
9 month
what age does a normally developing child be expected to stand without any support?
12 months
what age does a normally developing child be expected to run without coordination?
2 years
what age does a normally developing child be expected to pedal a tricycle?
3 years
what age does a normally developing child be expected to climb stairs with alternating feet?
3 years
what age does a normally developing child be expected to balance on one foot?
4 years
DDST-II
Denver Developmental Screening Test; assesses the 4 major domains of development; early identifications, early intervention, better outcome
Parental questionnaires that MOST pediatricians use in their offices are based off of which screening test?
DDST-II; Denver Developmental Screening Test
M-CHAT-R
Modified Checklist for Autism in Toddlers- Revised; administered between 18-24 months; focuses on personal/social and language domains; not important for myopathies
Weakness vs Hypotonia
weakness - decreased ability to voluntarily and actively move muscles against resistance
hypotonia - decreased muscles tone
Duchenne Muscular Dystrophy (DMD)
most common severe childhood form of MD; x-linked (frameshift mut for absent or dysfxnal dystrophin gene); proximal muscle weakness, delayed walking difficulty running, Gower’s sign present; progresses rapidly; life expectancy is late teens; CK is elevated; tx with steroids
the most common severe childhood form of muscular dystrophy?
Duchenne Muscular Dystrophy (DMD)
Becker Muscular Dystrophy (BMD)
less severe form of DMD; x linked with in-frame mut of dystrophin gene; proximal muscle weakness, neck flexor strength is preserved (contrast from DMD), independent walking until late teens; life expectancy in 4th decade, CK elevated and tx with steroids
What is a positive Gower sign indicative of?
clinically a sign of severe proximal muscle weakness
Congenital muscular dystrophy (CMD)
AR mut in structural proteins of ECM; present at birth or in early infancy; hypotonia, severe symmetric proximal muscle weakness; joint contractures present, may have other malformations involving the eyes, brain or heart
Dystrophy associated with an autosomal recessive mutation in structural proteins of extracellular matrix?
Congenital muscular dystrophy (CMD)
Pompe disease
a AR glycogen storage disease; alpha-glucosidase mutation; build up of glycogen in lysosomes generalized weakness and hypotonia; cardiac failure by 18 months, respiratory issues and feeding difficulties; enzyme therapy is available
a AR glycogen storage disease; alpha-glucosidase mutation; build up of glycogen in lysosomes generalized weakness and hypotonia; cardiac failure by 18 months, respiratory issues and feeding difficulties
Pompe disease
Juvenile dermatomyositis (JDM)
most common acquired idiopathic myopathy in children; systemic and autoimmune (cellular or humoral); onset at 7 yrs; proximal muscle weakness, heliotrope rash with periorbital edema, Gottron’s papule and thrombi or hemorrhage in peri-fungal beds
Pathology characterized by proximal muscle weakness, heliotrope rash with periorbital edema, Gottron’s papule and thrombi or hemorrhage in peri-fungal beds?
Juvenile dermatomyositis (JDM);most common acquired idiopathic myopathy in children
Clinical significance of elevated creatinine kinase (CK)?
indicator of muscle damage; highest in skeletal muscle
Clinical significance of gamma glutamyl transferase (GGT)?
GGT is in many organs, but present in a high concentration in the liver; if elevated think liver; if normal think muscle
If gamma glutamyl transferase (GGT) is elevated, which organ should you suspect for damage?
liver; if normal think muscle
