Peds - 18 - SMA

spinal muscular atrophy

SMA stands for ___________

anterior horn cells; muscle atrophy, weakness

SMA is a group of genetic disorders characterized by degeneration of _________ with resultant ________ and _______

autosomal recessive

genetically, 95% of the time SMA is ____________ and results from a homozygous deletion or mutation of the survival motor neuron (SMN) 1 gene on chromosome 5

DEGENERATION

the primary target of SMN deficiency is selective __________ of motor neurons in the anterior horn cells of the brainstem and spinal cord

SMN 2

the ______ gene plays a part in the degree of severity of SMA

TRUE

T/F: SMN 1 and SMN 2 are nearly identical

severity

the number of SMN 2 genes that produce functional SMN protein impacts the ________ of SMA

type, drugs

SMA used to be classified based on ______, but now there are ______ that significantly change progression of the disease

newborn screening

in march of 2022, SMA was officially added to the __________ test in virginia

FALSE - largely unknown

T/F: the disease trajectory of SMA is predictable

FRACTURE

many kids with SMA, especially those who do not walk, have a very high risk of _________

orthotics

_______ and other equipment should be used to support functional mobility in kids with SMA