Pediatric Myopathies Flashcards
Discuss the importance of monitoring development in children.
The sooner we identify developmental delays and the sooner we intervene…the better the outcome!
A failed screen is simply an indication for a more thorough evaluation
Name the four general domains of pediatric development.
• Gross Motor
- Movements using the large muscles
• Fine Motor
- Movements using the hands and smaller muscles, often involving daily living skills
• Language
- Receptive and expressive communication, speech and nonverbal communication
• Cognitive/Social‐Emotional and Behavioral
- Attachment, self‐regulation, and interaction with others
Explain the importance of early intervention in children with developmental delay.
The sooner we identify developmental delays and the sooner we intervene…the better the outcome!
Understand that not hitting developmental milestones can be serious, but hitting milestones and then regressing is even more ominous.
List the gross motor developmental milestones discussed during this session.
6 months
- Babbles (consonants)
- Sits momentarily
9 months
- Momma/dadda (nonspecific)
- Pulls up
• Cruises
• Sits well without support
1 year
- Separation anxiety (initially shy with strangers)
- Momma/dadda (specific)
• Stands momentarily
2 years
- Walks well, runs
- Walks up stairs
- Kicks ball forward
- 2 words together
- 2/4 of language understood by people who don’t live in the home
3 years
• Tricycle
- 3 numbers, 3 colors, 3 words together
- ¾ of speech understood by strangers
4 years
• Balance on one foot (1‐3 seconds)_
• Hop on one foot
• 4/4 of speech understandable by strangers
• Small sentences
6 years
- Skips
- Draws
Use the DDST II to assess developmental status of children.
DDST II-(Denver Developmental Screening Test II
normal items
a child passes an item that falls completely to the right of age line, the child’s development is considered advanced.
this is an item that most children of that age do not pass until they are older
advanced items are not considered for overall intereting of test
delayed items
a delay is indicaated when a child fails or refuses an item that falls completely to the left of the age line
child has failed an item that 90% of children in the standardization sample passed at an eariler age
considered for interpreting overall tests
Describe the clinical presentation, inheritance pattern, and genetic abnormality seen in DMD.
- What is a myopathy?
- A muscle disease unrelated to any disorder of innervation or neuromuscular junction.
DMD
Most common severe childhood form
Caused by dystrophin gene mutations
X‐linked recessive
May develop cardiomyopathy, muscle weakness, or muscle cramps
Out‐of‐frame (frameshift) mutations disrupt the reading frame
Results in absence of muscle dystrophin
Describe the clinical presentation, inheritance pattern, and genetic abnormality seen in BMD.
In‐frame mutation of the dystrophin gene
- Production of abnormal or semi‐functional dystrophin
- Less severe muscle weakness
Proximal muscle weakness after 5 years of age (older at presentation)
Serum CK is 50 times normal
Describe the presentation of congenital muscular dystrophies.
Present at birth or early infancy
- Hypotonia •Severe muscle weakness (proximal>distal) at birth or shortly thereafter
- Joint contractures
- May present with:
- Malformations of the eyes
- Malformations of the brain
- Cardiomyopathy
- Rigid spine
Explain the importance of GGT in differentiating between muscle disease and liver disease.
GGT (gamma‐glutamyl transferase) level can help determine if the liver is involved
If elevated‐think liver
If normal‐think muscle
Explain the role dystrophin plays in muscular dystrophies.
dystrophin-complex acts as an anchor, connecting each muscle cell’s structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix)
keeps the muscls intact.
over time healthy muscle fibers are lost and replaced by fibrosis and fat, making muscle tissues less able to generate force for everyday activity
Know that congenital myasthenia syndrome does NOT involve antibodies (unlike those seen in myasthenia gravis)
due to structural abnormalities in the postsynaptic receptor rather than an autoimmune disorder.
Opthalmopathia is common
Describe the clinical picture seen with Spinal Muscular Atrophy.
Hypotonia: decreased resistance to passive range of motion
Postural tone:
- A sustained , low‐intensity muscle contraction in response to gravity
- Mediated by both the gamma and alpha motor neuron systems in the spinal cord
- Assessed clinically by the passive manipulation of the limps
Floppy baby
List the major clinical findings of juvenile dermatomyositis.
Most common idiopathic inflammatory myopathy in children
Clinical presentation
- Generalized muscle weakness (proximal>distal)
- Red or purplish heliotrope rash over the eyelids
- Raised erythematous papules over the extensor joint surfaces (Gottren papules)
- Thrombi or hemorrhage in peri ‐ungual capillary beds
acquired
Describe statin induced myopathy
Statins can cause
Necrotizing and inflammatory myopathy
• Muscle weakness • Pain • Tenderness
Elevation of CK to more than 10 times normal
