- muscle weakness and decreased muscle tone.
- limited mobility.
- breathing problems.
- problems eating and swallowing.
- delayed gross motor skills.
- spontaneous tongue movements.
- scoliosis (curvature of the spine)
What is the gold standard for SMA diagnosis?
MLPA is the gold standard of SMA diagnosis. It can detect SMN1 copy number, investigate the mechanism responsible for SMN1 loss (i.e., deletion or conversion to SMN2), evaluate the SMN2 copy number and determine the extent of deletion in the 5q13.
How early can SMA be diagnosed?
SMA type I, also called Werdnig-Hoffmann disease or infantile-onset SMA, is evident usually before 6 months of age.
What is the life expectancy of someone with SMA?
Infants with type 1 SMA usually die before their second birthday. Children with type 2 or type 3 SMA may live full lives depending on the severity of symptoms. People who develop SMA during adulthood (type 4) often remain active and enjoy a normal life expectancy.