Table 1 Clinical characteristics of SMA patients
ID | Age | Gender | SMA type | SMN1 mutation | SMN2 copies | Ambula-tory | CHOP-INTEND (max. 64) | HFSME (max. 66) | RULM (max. 37) |
|---|---|---|---|---|---|---|---|---|---|
SMA001 | 2 m | M | PRE | Hom. Δ7/8 | 4 | No | 59 | – | |
SMA002 | 4 m | M | PRE | Hom. Δ7/8 | 4 | No | 54 | – | – |
SMA003 | 7 m | F | PRE | Hom. Δ7/8 | 5 | No | 64 | – | – |
SMA004 | 1y 2 m | F | PRE | Hom. Δ7/8 | 5 | No | – | – | – |
SMA005 | 3 m | F | PRE | Hom. Δ7, Het. Δ8 | 4 | No | 62 | – | – |
SMA006 | 2 m | F | 1 | Hom. Δ7/8 | 2 | No | 22 | – | – |
SMA007 | 4 m | F | 1 | Hom. Δ7/8 | 2 | No | 22 | – | – |
SMA008 | 3 m | M | 1 | Hom. Δ7/8 | 2 | No | 13 | – | – |
SMA009 | 5 m | M | 1 | Het. Δ7/8, (c.46delG) | 2 | No | 20 | – | – |
SMA010 | 5 m | M | 1 | Hom. Δ7 | 2 | No | 28 | – | – |
SMA011 | 9 m | M | 1 | Hom. Δ7/8 | 3 | No | 32 | – | – |
SMA012 | 14y | F | 1 | Hom. Δ7/8 | 2 | No | 18 | – | 1 |
SMA013 | 16y 10 m | F | 1 | Hom. Δ7/8 | 3 | No | 10 | – | 5 |
SMA014 | 5y 5 m | F | 1 | Hom. Δ7 | 3 | No | – | – | – |
SMA015 | 1y 2 m | F | 2 | Hom. Δ7 | 3 | No | – | 10 | – |
SMA016 | 1y 5 m | M | 2 | Hom. Δ7/8 | 3 | No | 44 | – | – |
SMA017 | 2y 6 m | F | 2 | Hom. Δ7/8 | 3 | No | 59 | 12 | – |
SMA018 | 9y | M | 2 | Hom. Δ7/8 | 3 | No | 26 | – | 6 |
SMA019 | 14y 8 m | M | 2 | Hom. Δ7 | 3 | No | – | 7 | 21 |
SMA020 | 17y 8 m | F | 2 | Hom. Δ7/8 | 3 | No | – | 17 | 25 |
SMA021 | 18y | M | 2 | Hom. Δ7/8 | 3 | No | – | 0 | 6 |
SMA022 | 18y 11 m | F | 2 | Hom. Δ7/8 | 3 | No | – | 2 | 15 |
SMA023 | 3y 2 m | F | 3a | Hom. Δ7/8 | 3 | Yes | – | 36 | 11 |
SMA024 | 8y 3 m | F | 3a | Hom. Δ7/8 | 3 | No | – | – | – |
SMA025 | 8y 9 m | F | 3a | Hom. Δ7/8 | 3 | No | – | 22 | 21 |
SMA026 | 12y 8 m | F | 3a | Hom. Δ7/8 | 3 | No | – | 31 | 23 |
SMA027 | 3y 5 m | M | 3b | Hom. Δ7, Het. Δ8 | 2 | Yes | – | 50 | 20 |
SMA028 | 4y 4 m | M | 3b | Hom. Δ7/8 | 4 | Yes | – | 44 | 21 |
SMA029 | 14y 1 m | F | 3b | Hom. Δ7/8 | 4 | Yes | – | 54 | 33 |