|
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
|
- CHOP-INTEND, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; Δ/del, deletion; F, female; het, heterozygous; HFSME, Hammersmith Functional Motor Scale Expanded; hom, homozygous; M, male; m, months; PRE, pre-symptomatic; RULM, Revised Upper Limb Module; SMA, spinal muscular atrophy; y, years
