Table 1.
Clinical SMA Types4
SMA Type | Clinical Manifestations | SMN2 Copy Number |
---|---|---|
0 | Reduced prenatal movement, symptoms at birth, death early | Typically 1 |
1 | Symptoms by 6 months of age; lack of sitting; respiratory, feeding, orthopedic complications | Most commonly 2, sometimes 1 or 3 |
2 | Symptoms between 6–18 months, able to sit but not walk, respiratory, feeding and orthopedic complications | Most commonly 3, sometimes 2 or 4 |
3 | Symptoms after 18 months, able to sit, stand, and walk. May have respiratory, feeding, and orthopedic complications | Most commonly 3–4, but variable |
4 | Symptoms onset in adulthood, typically mild | Typically 4 |
SMA, spinal muscular atrophy; SMN, survival motor neuron