Characteristic |
SMA-LED |
CMT2O |
P value
|
P value
|
Female/Male |
22/22 |
3/13 |
0.030 |
0.030 |
Mean age ±SD (range), years |
21.86±19.88 |
26.67±20.04 |
0.727 |
0.727 |
Mean onset age |
|
|
|
|
at birth (%) |
30/63 (47.6) |
2/15 (13.3) |
<0.05 |
0.006 |
infantile (≤1y) (%) |
10/63 (15.9) |
7/15 (46.7) |
<0.05 |
|
early childhood (>1y, ≤3y) (%) |
10/63 (15.9) |
4/15
(26.7) |
>0.05 |
|
childhood (>3y, ≤12y) (%) |
6/63 (9.5) |
1/15 (6.7) |
>0.05 |
|
juvenile (>12y, ≤20y) (%) |
0 (0) |
1/15 (6.7) |
<0.05 |
|
adulthood (>20y) (%) |
7/63 (11.1) |
0 (0) |
>0.05 |
|
Epilepsy (%) |
7/73 (9.6) |
0 (0) |
0.437 |
0.437 |
Delayed motor milestones (%) |
32/62 (51.6) |
12/16 (75.0) |
0.093 |
0.093 |
LL muscle atrophy (%) |
60/70 (85.7) |
13/16 (81.3) |
0.950 |
0.950 |
PLL-dominant (%) |
11/42 (26.2) |
0 (0) |
<0.05 |
0.112 |
DLL-dominant (%) |
24/42 (57.1) |
10/13 (76.9) |
>0.05 |
|
both PLL and DLL (%) |
7/42 (16.7) |
3/13 (23.1) |
>0.05 |
|
mild (%) |
7/20 (35.0) |
3/3 (100) |
<0.05 |
0.207 |
moderate (%) |
5/20 (25.0) |
0 (0) |
>0.05 |
|
severe (%) |
8/20 (40.0) |
0 (0) |
>0.05 |
|
LL muscle weakness (%) |
72/74 (97.3) |
16/16 (100) |
1.000 |
1.000 |
PLL-dominant (%) |
39/48 (81.3) |
1/16 (6.2) |
<0.05 |
<0.001 |
DLL-dominant (%) |
3/48 (6.2) |
13/16 (81.3) |
<0.05 |
|
both PLL and DLL (%) |
6/48 (12.5) |
2/16 (12.5) |
>0.05 |
|
mild (%) |
8/20 (40.0) |
5/6 (83.3) |
>0.05 |
0.239 |
moderate (%) |
8/20 (40.0) |
1/6 (16.7) |
>0.05 |
|
severe (%) |
4/20 (20.0) |
0 (0) |
>0.05 |
|
UL involvement (%) |
12/69 (17.4) |
3/16 (18.8) |
1.000 |
1.000 |
Trunk involvement (%) |
3/69 (4.3) |
1/16 (6.2) |
0.573 |
0.573 |
Abnormal tendon reflex (%) |
57/63 (90.5) |
10/16 (62.5) |
0.017 |
0.017 |
Decreased/absent (%) |
55/57 (96.5) |
10/10 (100) |
>0.05 |
1.000 |
Increased (%) |
2/57 (3.5) |
0 (0) |
>0.05 |
|
Ambulant (%) |
65/76 (85.5) |
15/16 (93.8) |
0.632 |
0.632 |
Gower’s sign (%) |
7/44 (15.9) |
NA |
NA |
NA |
Abnormal sensation (%) |
1/66 (1.5) |
9/16 (56.3) |
<0.001 |
<0.001 |
Deformities (%) |
66/73 (90.4) |
13/16 (81.3) |
0.539 |
0.539 |
joint (%) |
32/66 (48.5) |
1/16 (6.2) |
0.006 |
0.006 |
feet (%) |
53/66 (80.3) |
8/16 (50.0) |
0.266 |
0.266 |
pes cavus (%) |
27/66 (40.9) |
8/16 (50.0) |
0.171 |
0.171 |
pes planus (%) |
5/66 (7.6) |
0 (0) |
0.584 |
0.584 |
others (%) |
21/66 (31.8) |
2/16 (12.5) |
0.391 |
0.391 |
hands (%) |
3/66 (4.5) |
0 (0) |
1.000 |
1.000 |
spine (%) |
15/66 (22.7) |
5/16 (31.3) |
0.399 |
0.399 |
others (%) |
9/66 (13.6) |
2/16 (12.5) |
1.000 |
1.000 |
Cognitive impairment (%) |
17/66 (25.8) |
4/16 (25.0) |
1.000 |
1.000 |
mild (%) |
13/66 (19.7) |
NA |
NA |
NA |
moderate (%) |
1/66 (1.5) |
NA |
NA |
NA |
severe (%) |
0 (0) |
NA |
NA |
NA |
ADHD (%) |
9/66 (13.6) |
0 (0) |
0.263 |
0.263 |
Increased CK level (%) |
3/24 (12.5) |
NA |
NA |
NA |
Abnormal NCV results (%) |
7/34 (20.6) |
0 (0) |
0.128 |
0.128 |
Abnormal brain MRI (%) |
8/18 (44.4) |
NA |
NA |
NA |