Pediatric Neuromuscular disorders Flashcards
How do you screen for weakness in a child from 0-6 months and what are the red flags?
pull to sit-> head lag at 5 months
breathing-> sternal retraction, paradoxical or abdominal breathing, accessory mm, increased work
How do you screen for weakness in a child from 6-12 months and what are the red flags?
sitting-> unable to sit independently at 7 months
prone to sit-> get into sitting independently by 9 months
How do you screen for weakness in 12-18 months and what are the red flags?
floor to stand-> unable to rise from floor without support by 18 months
walking-> unable to walk by 18 months
How do you screen for weakness in a child older than 18 months and what are the red flags?
running-> unable to run with both feet off the floor by 24 months
jumping-> unable to jump with both feet by 2.5 years, or unable to hop on 1 foot by 4 years
How do you screen for weakness in a child that is older than 2 years old?
stair climbing-> use handrail to pull self up stairs using hand over hand, unable to climb stairs with reciprocal pattern by 3.5 years
What type of testing would you do for a child that is showing unexplained gross motor delay, loss of motor milestones, signs of mm weakness?
creatine kinase testing
What would a mildly elevated CK (180-3,000) indicate, how about a significantly elevated CK (3,000-30,000)?
mild would indicate more SMA, neuropathy or congenital myopathy while significant would indicate DMD, BMD, congenital MD, or LGMD
T/F, SMA is an autosomal dominant pathology
false, it is autosomal recessive
What protein is insufficient in SMA?
SMN, which causes decreased signal from CNS to mm which leads to mm atrophy
What is the most common type of SMA (60%) and what is the life expectancy?
Type 1, less than 2 years
What are the new categories for SMA?
non-sitters, sitters, walkers
What outcome measures could you use on a SMA non-sitter?
HINE-2, CHOP INTEND
What outcome measures could you use on a SMA sitter?
HFMSE, MFM, RULM, TFTs
What outcome measures could you use on a SMA walker?
HFMSE, MFM, RULM, TFTs, 6MWT
T/F, SMA drugs have been clinically tested and found to help with survival rates and improvement of gross motor skills and developmental skills
true, SMA has had very good results in clinical trials
t/f, strengthening is contraindicated in a child with SMA
false, it is not contraindicated in SMA
What are the primary goals in treating a child non sitter with SMA?
optimize function, minimize impairment, and optimize tolerance to positions
What are the primary goals in treating a child sitter with SMA
prevent contractures and scoliosis, maintain, restore and promote function and mobility
What are the primary goals in treating a child who is a walker with SMA?
maintain, restore, or promote function, mobility and adequate joint range and improve balance and endurance
T/f, Duchenne and Becker MD are both x linked recessive pathologies
true, most common lethal childhood disease with mom as the carrier
What are some differences between Duchenne’s and Beckers?
DMD has an earlier onset (3-5yrs) and shorter life expectancy (mid 20s) vs. Beckers (5-15 onset, mid 60s)
DMD affects neck, shld, trunk, posterior LE
Becker affects: post neck, trunk and ant thigh
t/f, DMD pathology includes a chronic inflammatory state that leads to fibrosis and mm stiffness
true, and this increased oxidative stress can also lead to recurrent ischemia
What are some objective findings of a child with DMD?
hypotonia, enlarged calf, weakness in neck flexors, abdominals, interscapulars, hip extensors, tightness in gastroc/soleus, lordosis, scapula wining and equinus
t/f, a child with DMD will be able to run normally
false, most never have a true running pattern and instead have a “Duchenne Jog”
