Table 2 Clinical characteristics, functional ability, and medical care of patients with SMA, by SMA type and by current motor function

Mean age at first symptoms, years (SD)

0 (0)

0.3 (0.6)

0.8 (0.8)

1.0 (0.6)

1.4 (0.6)

1.6 (0.5)

3.0 (0)

10.6 (8)

35 (0)

1 (0.8)

3 (5.4)

0.5 (0.8)

3.9 (6.8)

2 (1.0)

11.5 (8.7)

4.6 (7.2)

Mean age at SMA diagnosis, years (SD)

0.4 (0.5)

0.7 (0.6)

0.9 (0.7)

2.3 (3.2)

2.2 (0.5)

10.9 (13.1)

5.3 (0.6)

18.6 (12.9)

47 (0)

1 (0.8)

4.7 (6.5)

0.9 (1.0)

9 (12.6)

3.3 (2.0)

20.1 (13.0)

9.1 (12.3)

Duration of illness, years (SD)

7.4 (4.3)

31.0 (17.6)

9.8 (5.1)

31.2 (9.4)

8.2 (4.8)

49.6 (12.3)

9.1 (4.9)

37.1 (16)

13 (0)

12 (3.7)

36 (11.4)

8.9 (5.0)

37.4 (15.5)

6.9 (3.4)

34.7 (14.0)

30.4 (17.6)

SMA type

SMA1, n (%)

–

1 (14)

5 (39)

2 (4)

–

–

8 (8)

SMA2, n (%)

4 (100)

4

(57)

6

(46)

25 (45)

1

(14)

–

40 (37)

SMA3, n (%)

–

2

(29)

2

(15)

29 (52)

6

(86)

19 (95)

58 (54)

SMA4, n (%)

–

–

–

–

–

1 (5)

1 (1)

Best motor skills of lower extremities

None, n (%)

–

1 (33)

4 (36)

4 (14)

1 (20)

–

–

2 (6)

–

12 (11)

Sitting, n (%)

5 (100)

2

(67)

4

(36)

25 (86)

1

(20)

12 (86)

–

12 (33)

–

61 (57)

Standing, n (%)

–

–

2 (18)

–

–

–

–

5 (14)

–

7 (7)

Walking, n (%)

–

–

1

(9)

–

3

(60)

2

(14)

3 (100)

17 (47)

1 (100)

27 (25)

Best motor skills of upper extremities

None, n (%)

1 (20)

2 (67)

–

4 (14)

–

1 (7)

–

–

–

–

1 (14)

1 (8)

6 (11)

–

–

8 (8)

Holding/picking up pen/coin with fingers, n (%)

1

(20)

–

–

10 (35)

–

2

(14)

–

5

(14)

–

–

3

(43)

1

(8)

12 (21)

–

2

(10)

18 (17)

Lifting hand to mouth, n (%)

3

(60)

1

(33)

7

(64)

15 (52)

1

(20)

5

(36)

–

8

(22)

1 (100)

4 (100)

3

(43)

7

(54)

24 (43)

–

3

(15)

41 (38)

Lifting hand above head, n (%)

–

–

4

(36)

–

4

(80)

6

(43)

3 (100)

23 (64)

–

–

–

4

(31)

14 (25)

7 (100)

15 (75)

40 (37)

Use of medical equipment for motor skills*

None, n (%)

–

–

–

–

–

–

2

(67)

11 (31)

–

–

–

–

2

(4)

2

(29)

9

(45)

13 (12)

Orthoses, n (%)

5 (100)

2

(67)

6

(55)

8

(28)

2

(40)

–

–

2

(6)

–

1

(25)

1

(14)

10 (77)

9

(16)

2

(29)

2

(10)

25 (23)

Wheeled walker/ Crutches, n (%)

–

–

1 (9)

–

2 (40)

2 (14)

–

6 (17)

–

–

–

2 (15)

1 (2)

1 (14)

7 (35)

11 (10)

Wheelchair, n (%)

4

(80)

3 (100)

10 (91)

29 (100)

4

(80)

13 (93)

1

(33)

23 (64)

1 (100)

4 (100)

7 (100)

12 (92)

54 (96)

3

(43)

8

(40)

88 (82)

Scoliosis, n (%)

5 (100)

3 (100)

11 (100)

28 (97)

3

(60)

8

(57)

1

(33)

14 (39)

–

4 (100)

6

(86)

13 (100)

41 (73)

3

(43)

6

(30)

73 (68)

Operation of scoliosis, n (%)

1

(20)

–

7

(64)

20 (69)

2

(40)

1

(7)

–

3

(8)

–

4 (100)

2

(29)

6

(46)

22 (39)

–

–

34 (32)

Food intake support

None, n (%)

1

(20)

–

8

(73)

10 (35)

5 (100)

12 (86)

3 (100)

34 (94)

1 (100)

2

(50)

3

(43)

8

(62)

34 (61)

7 (100)

20 (100)

74 (69)

None, but can eat only soft/puréed food, n (%)

–

2 (67)

–

5 (17)

–

–

–

–

–

–

1 (14)

–

6 (11)

–

–

7 (7)

G-tube, n (%)

3 (60)

–

1 (9)

5 (17)

–

–

–

–

–

–

2 (29)

4 (31)

3 (5)

–

–

9 (8)

Other, n (%)

1

(20)

1

(33)

2

(18)

9

(31)

–

2

(14)

–

2

(6)

–

2

(50)

1

(14)

1

(8)

13 (23)

–

–

17 (16)

Ventilatory support

None, n (%)

–

1

(33)

5

(46)

11 (38)

5 (100)

11 (79)

3 (100)

33 (92)

1 (100)

–

2

(29)

6

(46)

36 (64)

7 (100)

19 (95)

70 (65)

Cough assist, n (%)

–

–

2 (18)

6 (21)

–

2 (14)

–

–

–

2 (50)

–

–

7 (13)

–

1 (5)

10 (9)

Non-invasive breathing support, n (%)

3

(60)

2

(67)

4

(36)

11 (38)

–

–

–

2

(6)

–

2

(50)

4

(57)

5

(39)

11 (20)

–

–

22 (21)

Invasive breathing support, n (%)

1 (20)

–

–

–

–

–

–

–

–

–

1 (8)

–

–

–

1 (1)

Other, n (%)

1 (20)

–

–

1 (3)

–

1 (7)

–

1 (3)

–

–

1 (14)

1 (8)

2 (4)

–

–

4 (4)

Supportive therapy*

None, n (%)

–

1 (33)

–

4 (14)

–

–

–

9 (25)

–

–

1 (14)

–

9 (16)

–

4 (20)

14 (13)

Physiotherapy, n (%)

5 (100)

2

(67)

11 (100)

25 (86)

5 (100)

14 (100)

3 (100)

26 (72)

1 (100)

4 (100)

6

(86)

13 (100)

47 (84)

7 (100)

15 (75)

92 (86)

Occupational therapy, n (%)

2

(40)

–

3

(27)

4

(14)

1

(20)

2

(14)

–

3

(8)

1 (100)

1

(25)

–

3

(23)

8

(14)

2

(29)

2

(10)

16 (15)

Speech therapy, n (%)

4 (80)

1 (33)

1 (9)

9 (31)

1 (20)

–

1 (33)

1 (3)

–

–

1 (14)

5 (39)

9 (16)

2 (29)

1 (5)

18 (17)

Other, n (%)

2 (40)

–

1 (9)

1 (4)

1 (20)

2 (14)

–

7 (19)

–

–

–

3 (23)

6 (11)

2 (29)

4 (20)

15 (14)

SMA-specific medication

None, n (%)

1 (20)

–

–

7

(24)

–

3

(21)

1

(33)

12 (33)

–

–

1

(14)

1

(8)

19 (34)

1

(14)

2

(10)

24 (22)

Nursinersen, n (%)

4

(80)

1

(33)

8

(73)

8

(28)

3

(60)

10 (71)

2

(67)

22 (61)

1 (100)

1

(25)

–

12 (92)

24 (43)

4

(57)

18 (90)

59 (55)

Risdiplam, n (%)

–

2

(67)

3

(27)

14 (48)

2

(40)

1

(7)

–

2

(6)

–

3

(75)

6

(86)

–

13 (23)

2

(29)

–

24 (22)