Description

X-EDMD
(n=15)

AD-EDMD
(n=10)

X-EDMD carriers
(n=8)

Family history

familial (14)
sporadic (1)

familial (7)
sporadic (3)

familial (8)

Age (yrs)

25 (18-36)

29 (22-31)

33 (28-51)

Skeletal muscle involvement

elbow, ankle contractures and spine rigidity (15)
generalized muscle atrophy (3)
arms, calf atrophy (5)
arm atrophy (2)

elbow, ankle contractures and spine rigidity (9)
generalized atrophy (6)
arms, tights (2)
arms, calf atrophy (1)
wheelchair-bound (2)

no skeletal muscle involvement

Cardiac symptoms

AVB 2/3 (7)
AF/AFL (5)
tachy-brady (3)

heart failure (3)
(including NYHA III (1), NYHA II/III (2)
AVB 3 (3)
AF (4)
SVT (3)
VT (1)

AVB 2/3 (2)

Cardiac device/age of implantation

pacemaker/14-33 yrs) (11)

Pacemaker/20-41 yrs (5), then ICD/28-29yrs (2 of these 5)

Pacemaker/42-44 yrs (2)

Mutation

1A>G (2)
3G>A (1)
153delC (6)
192G>T, 194insC (1)
256C>T (1)
266-27del18 (1)
397C>T (1)
399+1G>C (1)
450insG (1)

334_336del (1)
788T>C (1)
743T>C (1)
1072G>A (1)
1337A>T (1)
1357C>T (4)

153delC (4)
399+1G>C (2)
450insG (2)

CK-MB (%) A

3.2 (2.6-6.4) (n=11)

3.4 (2.5-7.7) (n=7)

9.9 (2.0-10.5) (n=5)

Values are presented as medians and interquartile ranges
Number of patients is shown in parentheses
A Values in normals: 2.2 (0.0-2.8) (n=20)
Abbreviations: AF - atrial fibrillation; VT - ventricular tachycardia; AFL - atrial flutter; SVT - supraventricular tachycardia; AVB atrio-ventricular block; ICD - implanted
cardioverter/defibrillator

Table 1: Summary of clinical and laboratory data in patients with Emery-Dreifuss muscular dystrophy