Table 1 Clinical and demographic characteristics of LAMA2-related muscular dystrophy cohort

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)