Table 1.
Clinical and demographic characteristics of LAMA2-related muscular dystrophy cohort
| LAMA2-CMD | LGMDR23 | |
|---|---|---|
| Age of onset, median (range), months | 0.0 (0.0–6.0) | 18.0 (13.0–156.0) |
| Age of last follow-up, median (range), years | 6.4 (0.3–27.3) | 8.2 (3.2–27.0) |
| Male, % (n) | 62.1 (72/116) | 50.0 (7/14) |
| Survivors, % (n) | 80.2 (93/116) | 92.9 (13/14) |
| Ambulation alone over 1.5 years old, % (n) | 18.4 (18/98) | 100 (14/14) |
| Regression of motor function, % (n) | 31.2 (34/109) | 7.1 (1/14) |
| Spinal deformity, % (n) | 48.6 (54/111) | 7.1 (1/14) |
| Central nervous system involvement | ||
| Cognitive impairment, % (n) | 10.3 (12/116) | 0.0 (0/14) |
| Seizure, % (n) | 9.5 (11/116) | 35.7 (5/14) |
| Typical brain white matter alterations, % (n) | 92.2 (95/103) | 69.2 (9/13) |
| Respiratory involvement | ||
| Neonatal respiratory difficulty, % (n) | 7.7 (9/116) | 0.0 (0/14) |
| Breathing difficulty during follow-up, % (n) | 26.9 (29/108) | 0.0 (0/14) |
| Feeding | ||
| Neonatal feeding difficulty, % (n) | 25.8 (30/116) | 0 (0/14) |
| Chewing difficulty over 2 years old, % (n) | 65.1 (53/90) | 0.0 (0/14) |
| Swallowing difficulty over 2 years old, % (n) | 65.1 (11/90) | 0.0 (0/14) |
LAMA2-CMD LAMA2-related congenital muscular dystrophy, LGMDR23 limb-girdle muscular dystrophy-23