Table 1 Demographics of patients
Pathological condition | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | ||||||
Sibling 1 | Case 1 | Sibling 2 | Case 2 | Sibling 3 | Case 3 | Sibling 4 | Case 4 | Sibling 5 | Case 5 | |
Sex | Male | Male | Female | Male | Female | Female | Male | Male | Male | Female |
SMA type | Ia | – | Ia | – | Ia | – | Ib | – | Ib | – |
Copy number of SMN2 (exon 7) | 2 | 2 | 2 | 2 | 2 | 2 | 3 | 3 | 3 | 3 |
Gestational age at delivery | – | 37w1d | – | 37w0d | – | 38w0d | – | 38w3d | – | 38w1d |
Symptoms at birth | Diminished fetal activity | Deep tendon reflex( −) | – | Asymptomatic | – | Asymptomatic | – | Asymptomatic | – | Asymptomatic |
Symptoms of the onset | Not acquired head control | – | Not acquired head control | – | Not acquired head control | Frequent stumbling | Loss of head control | – | Loss of head control | Frequent stumbling |
Onset of SMA | At birth | – | < 0y6m | – | 0y4m | 2y7m | 0y4m | – | 0y4m | 3y11m |
Procedure | Tracheostomy Gastrostoma | – | – | – | Tracheostomy Gastrostoma | – | – | – | – | – |
Disease-modifying therapy (DMT) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
DMT initiation (gestational age) | – | 37w3d | – | 37w2d | – | 40w2d | – | 40w1d | – | 41w0d |
Nusinersen | 4y1m –5y0m | 3d | 0y6m –1y0m | 3d | 1y7m | – | – | – | 3y3m –ongoing | – |
Onasemnogene abeparvovec | – | 11d | 1y2m | 15d | – | 17d | – | 15d | – | 21d |
Risdiplam | – | 0y8m –ongoing | – | – | 6y7m –ongoing | 2y9m –ongoing | – | 4y0m –ongoing | – | 4y0m –ongoing |
Present status | Deceased at 5y2m | Pulling to stand | Sitting without support | Normal motor function | Not acquired head control (bedridden) | Climbing stairs with support | Deceased at 1y4m | Normal motor function | Loss of head control (wheelchair) | normal motor function |
Last observation (age) | 5y2m | 1y11m | 3y4m | 0y5m | 6y3m | 4y3m | 1y4m | 4y2m | 8y4m | 4y4m |