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