Newman: Pediatric Myopathies Flashcards
A failed developmental status screen during a well child visit is an indiciation for what?
Simply and indication for a more thorough evaluation
Name the four general domains of pediatric development.
- Gross motor
- Fine motor
- Language
- Cognitive/Social-Emotional and Behavioral
Explain the importance of early intervention in children with developmental delay.
The better the outcome
Which gross motor milestone should be reached by 6 months old?
Sits momentarily
Which 3 gross motor milestones should be reached by 9 months old?
- Pulls up
- Cruises
- Sits well without support
Which gross motor milestone should be reached by 1 year old?
Stands momentarily
Which 2 gross motor milestone should be reached by 2 years old?
- Walks up stairs
- Kicks ball forward
Which 2 gross motor milestone should be reached by 4 years old?
- Balance on one foot (1-3 sec.)
- Hop on one foot
Which gross motor milestone should be reached by 6 years old?
Skipping
A muscle disease unrelated to any disorder of innervation or neuromuscular junction describes what?
Myopathy
Why is Duchenne Muscular Dystrophy the most severe?
Out-of-frame (frameshift) mutations disrupt the reading frame = absence of muscle dystrophin
What is the inheritance pattern of Duchenne Muscular Dystrophy and how does this affect the sons + daughters of a carrier mother?
- X-linked recessive
- Sons have a 50% chance of having DMD
- Daughters have a 50% chance of being carriers
Girls who are carriers of DMD mutations may develop what complications?
- Cardiomyopathy, muscle weakness, or muscle cramps
- May have ↑ CK
When do congenital muscular dystrophies present and how?
- At birth or shortly thereafter
- Hypotonia + severe muscle weakness (prox. > distal)
- Joint contractures
- May present w/: malformations of eyes or brain, cardiomyopathy, or rigid spine
What is the inheritance pattern of glycogen storage disroder type 2 (Pompe disease); what type of mutation is the cause?
- Autosomal recessive; due to alpha-glucosidase gene mutation
- Leads to build-up of glycogen in lysosomes of cells, especially muscle
What is the most common idiopathic inflammatory myopathy in children?
Juvenile dermatomyositis
What is the clinical presentation of Juvenile Dermatomyositis?
- Red or purplish heliotrope rash over eyelids
- Raised erythematous papules over the extensor joint surfaces (Gottren papules)
- Thrombi or hemorrhage in periungal capillary beds
Explain the importance of GGT levels in differentiating between muscle disease and liver disease.
- If elevated = think liver
- If normal = think muscle
