Table 2.
Patient no. | Gender | Age of onset (year) | Duration (year) | Weakness pattern | Joint contractures | CK (U/L) | Cardiac evaluation |
---|---|---|---|---|---|---|---|
1 | M | 37 | 5 | Lower proximal | – | 747 | PI/right heart + LA enlargement |
2 | M | 33 | 8 | Upper + lower proximal + distal | – | 935.7 | PI/LA enlargement |
3 | M | 33 | 3 | Lower distal | – | 1366 | Frequent APB + CRBBB + LAFB/LA enlargement |
4 | F | 45 | 8 | Upper + lower proximal + distal | – | 383.4 | NA |
5 | M | 42 | 1 | Lower distal | – | 227.7 | CRBBB |
6 | M | 30 | 6 | Lower proximal | – | 1568.2 | CRBBB/LA enlargement |
7 | M | 48 | 19 | Upper + lower proximal + distal | – | 75.3 | PI |
8 | M | 13 | 20 | Upper + lower proximal + distal | – | 1016.5 | Normal |
9 | F | 5 | 20 | Lower distal | Achilles tendon/rigid spine | 374.2 | Obstructive hypertrophic cardiomyopathy |
10 | F | 9 | 10 | Lower proximal + distal; scapular winging | Achilles tendon/talipes cavus/scoliosis | 1269.7 | Mild mitral + tricuspid + pulmonary valve regurgitation |
11 | M | 37 | 10 | Upper distal | MCP/PIP/elbow/scoliosis | 691.3 | NA |
12 | F | 35 | 6 | Lower proximal | – | 259.2 | Normal |
13 | F | 6 | 2 | Lower proximal + distal | – | 450.8 | Mild mitral + tricuspid regurgitation |
14 | M | 42 | 10 | Upper + lower distal | – | 302.1 | LAFB/LA enlargement |
15 | M | 15 | 5 | Upper + lower proximal + distal | Achilles tendon/scoliosis | 340.5 | Atrial septal defect-closed |
16 | F | 1 | 27 | Lower proximal + distal | Talipes cavus/scoliosis | 375.1 | Mild mitral + tricuspid + pulmonary valve regurgitation |
17 | F | 1 | 26 | Lower proximal + distal | Talipes cavus/scoliosis | 296 | Normal |
18 | M | 18 | 5 | Lower proximal | – | 993.2 | Mild mitral + tricuspid regurgitation |
CRBBB, complete right bundle branch block; LA, left atrium; LAFB, left anterior fascicular block; NA, not available; PI, pacemaker implant.