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Spinal Muscular Atrophy
Terms in this set (11)
What is SMA?
Anterior horn cell degeneration of spinal cord that has a variable effect on motor nuclei of brain stem
What is SMA's claim to fame?
2nd most common fatal autosomal recessive disorder
(CF is 1st)
What are the 3 gene mutations and what happens with each?
UBA 1: X-linked
protein build up interferes with cell function
DYNC1H1: autosomal dominant
protein keeps neuron junction clear for efficient motor synapses in LE
B1CD2: autosomal dominant
What happens with Type 1 SMA?
Acute - 0-3 months
rapid onset and progress
GENERALLY DEATH IN 3 YRS WITHOUT VENT
What happens with Type 2 SMA?
Intermediate - 3 mths - 4 years
progressive but STABILIZES
weakness - sit but can't walk
power mobility for transport
shorter life -30-40
What happens with Type 3 SMA?
Juvenile - 5-10 years
can ambulate but will need power chair later
waddling, difficulty STS, stairs
What happens with Type 4 SMA?
Adult - 30-40 years
proximal mm weakness
How does SMA present?
Progressive atrophy (no DMD fatty calves)
How is SMA diagnosed?
Prenatal CVS test
EMG has long APs with high amplitude and frequency
What treatment is there for SMA?
No tx to stop progress
surgery for scoliosis
What should you not do in PT for SMA?
Strength training/stim - no nerve to mm anyway
THIS SET IS OFTEN IN FOLDERS WITH...
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Congenital Muscular Torticollis
Congenital Hip Dysplasia (DDH)
Brachial Plexus Birth Injury
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