Pediatric Myopathies Flashcards
When are developmental assessments performed and what is the purpose of them?
Performed at every well child visit
= help determine if child is keeping up with expected milestones
Developmental assessments can be used for the parents how?
Education for them and to show them there is a wide range of normal
The ____ a developmental deficit is identified, and the _____ an intervention is made the _____ the outcome
The EARLIER a developmental deficit is identified and the EARLIER an intervention is made the BETTER the outcome
What are the 4 domains of pediatric development?
- Gross motor
- Fine motor
- Language
- Cognitive/social-emotional and Behavior
What are the 4 domains of pediatric development?
- Gross motor
- Fine motor
- Language
- Cognitive/social-emotional and Behavior
What is more concerning than a child not meeting developmental milestones?
Losing developmental skills that had already been achieved!
developmental regression
What should you be suspicious of if developmental regression occurs?
Progressive disease
– losing developmental skills that had already been achieved
What age should a child be able to hold their chin up?
2 months
What age should a child be able to rollover?
4 months
What age should a child be able to sit up?
6 months
What age should a child be able to pull themselves up to a stand?
9 months
What age should a child be able to stand on their own?
1 year
What age should a child be able to run?
2 years
What age should a child be able to pedal a tricycle and climb stairs normally?
3 years
What age should a child be able to balance on 1 foot?
4 years
What are 2 screening tools that can be used?
- DDST-11
2. M-CHAT-R
What does the DDST-11 screening tool do?
Parenteral questionnaire to assess 4 developmental domains at each well child visit
When is the M-CHAT-R screening administered?
18 and 24 months
What does the M-CHAT-R screening tool assess?
Focuses on personal-social domain and language domain
Decreased muscle tone
Hypotonia
Decreased ability to voluntarily and actively move muscles against resistance
Weakness
What inheritance pattern occurs with Duchenne and Becker Muscular Dystrophy?
X-linked Recessive inheritance
What type of mutation occurs in the dystrophin gene with Duchenne?
Frameshift in dystrophin gene
What type of mutation occurs in the dystrophin gene with Becker?
In-frame mutation in dystrophin gene
Onset and outlook for Duchenne?
Around 2 years old –> fatal by teens to mid-twenties
Which Muscular dystrophy has absent neck flexor strength and cognitive dysfunction?
Duchenne
Duchenne Muscular Dystrophy symptoms?
Proximal muscle weakness, delayed walking/running with waddling gait
- lordosis and scoliosis
- calf and thick muscle pseudohypertrophy
Onset and outlook for Becker?
Presents later in life –> fatal in 40-60s
What molecule will be increased with Duchenne/Becker Muscular Dystrophies and what is used in their treatment?
Increased CK
–> Steroids
Is the neck flexor strength and cognitive function PRESERVED with Becker?
YES
What is the Gower Maneuver a sign of?
Severe proximal muscle weakness
Describe the Gower Maneuver
Going from the ground to standing:
- hands and knees
- hands and feet
- rolling up to a stand
What are some symptoms of Congenital Muscular Dystrophies?
Hypotonia, weakness, joint contractures AT BIRTH
How are Congenital Muscular Dystrophies inherited and where are the defects usually?
AR inheritance
– defects in ECM proteins
What is a Glycogen Storage Disorder?
Pompe disease
How is Pompe disease inherited and what gene is mutated?
AR inheritance
– mutated alpha-glucosidase gene
What will buildup in the muscles with Pompe Disease?
Glycogen
What are the symptoms of Pompe Disease?
Hypotonia, weakness, troubles feeding, breathing
Cardiomyopathy
What is a possible treatment for Pompe Disease?
Enzyme therapy
When will Juvenile Dermatomyositis present?
7 years old
Juvenile Dermatomyositis has many overlapping features with normal onset Dermatomyositis. What is a unique one though?
Peri-Ungual bed thrombi/hemorrhages around the nail beds
If GGT is elevated think?
Liver
If GGT is normal think?
Muscle
What does an elevated CK indicate?
Muscle damage
