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