Characteristic |
DHC_N1 |
DYN1 |
P value
|
P value
|
Female/Male |
21/34 |
7/10 |
0.825 |
0.825 |
Mean age ±SD (range), years |
24.90±20.28 |
10.39±8.84 |
0.006 |
0.006 |
Diagnosis (SMA-LED/CMT2O) |
64/15 |
13/1 |
0.485 |
0.485 |
Mean onset age |
|
|
|
|
at birth (%) |
26/67 (38.8) |
8/23 (34.8) |
>0.05 |
0.755 |
infantile (≤1y) (%) |
17/67 (25.4) |
10/23 (43.5) |
>0.05 |
|
early childhood (>1y, ≤3y) (%) |
11/67 (16.4) |
3/23
(13.0) |
>0.05 |
|
childhood (>3y, ≤12y) (%) |
6/67 (9.0) |
1/23 (4.3) |
>0.05 |
|
juvenile (>12y, ≤20y) (%) |
1/67 (1.5) |
0 (0) |
>0.05 |
|
adulthood (>20y) (%) |
6/67 (9.0) |
1/23 (4.3) |
>0.05 |
|
Epilepsy (%) |
5/77 (6.5) |
6/24 (25.0) |
0.030 |
0.030 |
Delayed motor milestones (%) |
36/67 (53.7) |
18/23 (78.3) |
0.038 |
0.038 |
LL muscle atrophy (%) |
64/77 (83.1) |
19/21 (90.5) |
0.625 |
0.625 |
PLL-dominant (%) |
11/46 (23.9) |
0 (0) |
>0.05 |
0.032 |
DLL-dominant (%) |
25/46 (54.3) |
9/9 (100) |
<0.05 |
|
both PLL and DLL (%) |
10/46 (21.7) |
0 (0) |
>0.05 |
|
mild (%) |
8/18 (44.4) |
2/5 (40.0) |
>0.05 |
0.297 |
moderate (%) |
5/18 (27.8) |
0 (0) |
>0.05 |
|
severe (%) |
5/18 (27.8) |
3/5 (60.0) |
>0.05 |
|
LL muscle weakness (%) |
76/79 (96.2) |
22/23 (95.7) |
1.000 |
1.000 |
PLL-dominant (%) |
37/57 (64.9) |
7/11 (63.6) |
>0.05 |
0.159 |
DLL-dominant (%) |
15/57 (26.3) |
1/11 (9.1) |
>0.05 |
|
both PLL and DLL (%) |
5/57 (8.8) |
3/11 (27.3) |
>0.05 |
|
mild (%) |
10/22 (45.5) |
4/12 (33.3) |
>0.05 |
0.048 |
moderate (%) |
8/22 (36.4) |
1/12 (8.3) |
>0.05 |
|
severe (%) |
4/22 (18.2) |
7/12 (58.3) |
<0.05 |
|
UL involvement (%) |
13/73 (17.8) |
5/24 (20.8) |
0.978 |
0.978 |
Trunk involvement (%) |
3/73 (4.1) |
2/24 (8.3) |
0.780 |
0.780 |
Abnormal tendon reflex (%) |
57/70 (81.4) |
18/20 (90.0) |
0.571 |
0.571 |
Decreased/absent (%) |
55/57 (96.5) |
18/18 (100) |
>0.05 |
1.000 |
Increased (%) |
2/57 (3.5) |
0 (0) |
>0.05 |
|
Ambulant (%) |
72/81 (88.9) |
17/21 (81.0) |
0.545 |
0.545 |
Gower’s sign (%) |
8/41 (19.5) |
1/13 (7.7) |
0.569 |
0.569 |
Abnormal sensation (%) |
10/69 (14.5) |
0 (0) |
0.258 |
0.258 |
Deformities (%) |
68/77 (88.3) |
23/24 (95.8) |
0.493 |
0.493 |
joint (%) |
27/68 (39.7) |
9/23 (39.1) |
0.961 |
0.961 |
feet (%) |
52/68 (76.5) |
15/23 (65.2) |
0.290 |
0.290 |
pes cavus (%) |
32/68 (47.1) |
5/23 (21.7) |
0.033 |
0.033 |
pes planus (%) |
4/68 (5.9) |
2/23 (8.7) |
1.000 |
1.000 |
others (%) |
18/68 (26.5) |
8/23 (34.8) |
0.446 |
0.446 |
hands (%) |
0 (0) |
3/23 (13.0) |
0.015 |
0.015 |
spine (%) |
16/68 (23.5) |
9/23 (39.1) |
0.147 |
0.147 |
others (%) |
9/68 (13.2) |
11/23 (47.8) |
0.001 |
0.001 |
Cognitive impairment (%) |
16/75 (21.3) |
15/19 (78.9) |
<0.001 |
<0.001 |
mild (%) |
9/11 (81.8) |
8/10 (80.0) |
>0.05 |
1.000 |
moderate (%) |
1/11 (9.1) |
0 (0) |
>0.05 |
|
severe (%) |
1/11 (9.1) |
2/10 (20.0) |
>0.05 |
|
ADHD (%) |
8/75 (10.7) |
5/19 (26.3) |
0.164 |
0.164 |
Increased CK level (%) |
3/22 (13.6) |
0 (0) |
1.000 |
1.000 |
Abnormal NCV results (%) |
4/45 (8.9) |
6/12 (50.0) |
0.004 |
0.004 |
Abnormal brain MRI (%) |
6/17 (35.3) |
12/14 (85.7) |
0.005 |
0.005 |