Table 2 Clinical, pathological and genetic data of 58 patients
Case/FH | Sex | Age at onset (m)/diagnosis(y) | Weakness pattern | maximum motor/(m) | Gene | Pathology | Follow-up age (y) | Motor function | Pulmonary function | Cardiac involvement | Contractures/ Tightness of Archilles |
|---|---|---|---|---|---|---|---|---|---|---|---|
1/− | F | 6/6 | Generalized | Walk/24 | RYR1 | CCD | 17 | Wheelchair | N | N | −/+ |
2/− | F | Birth/1.5 | Generalized | Sit/18 | RYR1 | CCD | 3 | Sit | N | N | +/+ |
3/AD | F | 12/16 | Generalized- | Walk/18 | RYR1 | CCD | 18 | Ambulation | N | N | −/− |
4/AD | M | Birth/3 | Generalized | Walk/36 | RYR1 | CCD | 12 | Wheelchair | N | N | −/+ |
5/− | M | 12/6 | Generalized | Walk/24 | TTN | MmD | 11 | Ambulation | N | A | −/+ |
6/− | M | 12/9 | Generalized | Walk/14 | RYR1 | MmD | 13 | Ambulation | N | N | −/− |
7/AR | M | Birth/0.4 | Generalized | Head control/5 | RYR1 | MmD | 2.5 | Ambulation | N | A | −/− |
8/− | M | Birth/12 | Generalized | Walk/36 | RYR1 | MmD | 14.3 | Ambulation | N | A | −/+ |
9/− | F | 6/2.6 | Axial/ Generalized | Walk/24 | TNNT1 | NM | 11 | Cane | A (FEV35.6%) | A | +/+ |
10/− | M | 2/4.1 | Generalized | Walk/24 | NEB | NM | 9 | Ambulation | A (FEV32.1%) | N | −/− |
11/− | M | 4/3 | Generalized | Walk/18 | unknown | NM | 7 | Ambulation | N | N | −/+ |
12/− | F | 12/5 | Generalized | Walk/19 | TTN | CNM | 13 | Ambulation | N | N | −/+ |
13/− | M | 12/12 | Generalized | Walk/16 | RYR1 | CNM | 18 | Ambulation | N | N | −/+ |
14/− | F | 4/2 | Generalized | Aided standing /24 | TTN | CNM | 4 | Ambulation | N | A | −/− |
15/− | M | 12/6 | Distal | Walk/17 | DNM2 | CNM | 6.8 | Ambulation | N | N | −/+ |
16/− | M | Birth/7 | Generalized | Walk/13 | DNM2 | CNM | 9.6 | Ambulation | N | N | −/− |
17/− | F | 12/13 | Generalized | Walk/24 | RYR1 | CFTD | 17.2 | Ambulation | N | N | −/− |
18/− | M | Birth/12 | Generalized | Walk/13 | RYR1 | / | 13 | Ambulation | N | N | −/− |
19/− | F | 8/9 | Axial/Generalized | Walk/14 | Unknown | MmD/NM | 10.1 | Cane | Intermittent ventilation | N | +/+ |
20/AR | F | Birth/8 | Generalized | Walk/16 | Unknown | MmD | 9.1 | Ambulation | Intermittent ventilation | A | −/+ |
21/− | M | Birth/10.8 | Generalized | Walk/24 | Unknown | NM | 11.3 | Ambulation | N | N | −/− |
22/− | F | 12/13 | Generalized | Walk/18 | Unknown | NM | 16 | Ambulation | A (FEV30.7%) | A | −/+ |
23/− | F | Birth/8 | Generalized | Walk/18 | Unknown | NM | 9.1 | Ambulation | A (FEV46%) | N | −/− |
24/AR | F | 12/2.3 | Generalized | Sit/27 | Unknown | NM | 3.3 | Sit | N | N | −/− |
25/− | M | 12/4 | Generalized | Walk/24 | Unknown | CNM | 10 | Ambulation | A (FEV72.5%) | N | +/+ |
26/− | M | 3/5 | Generalized | Walk/48 | Unknown | CNM | 8 | Cane/died | Continuous ventilation | A | +/+ |
27/− | F | Birth/1.9 | Axial / Generalized | Aided walking/22 | Unknown | CFTD | 8 | Wheelchair | A | N | −/+ |
28/− | M | 4/4 | Generalized | Walk/24 | / | CFTD | 5 | Ambulation/died | Continuous ventilation | N | −/− |
29/− | M | Birth/8 | Generalized | Walk/20 | Unknown | CFTD | 14 | Ambulation | N | N | +/+ |
30/− | M | 12/2.7 | Generalized | Walk/16 | / | CFTD | 12.7 | Ambulation | N | N | −/− |
31/− | M | 12/6.8 | Generalized | Walk/13 | Unknown | CFTD | 7 | Ambulation | N | A | −/− |
32/− | M | Birth/3.8 | Generalized | Walk/19 | RYR1 | CCD | / | / | / | / | / |
33/− | F | Birth/2 | Generalized | Walk/13 | RYR1 | CCD | / | / | / | / | / |
34/AD | F | 4/3 | Generalized | Walk/30 | NEB | NM | / | / | / | / | / |
35/− | F | Birth/3 | Generalized | Walk/18 | NEB | NM | / | / | / | / | / |
36/− | M | Birth/3.8 | Generalized | Walk/18 | NEB | NM | / | / | / | / | / |
37/− | M | 12/5 | Generalized | Walk/14 | ACTA1 | NM | / | / | / | / | / |
38/− | F | Birth/6 | Generalized | Walk/24 | ACTA1 | NM | / | / | / | / | / |
39/− | M | 4/2.1 | Generalized | Walk/22 | ACTA1 | NM | / | / | / | / | / |
40/− | F | 12/5 | Generalized | Walk/15 | ACTA1 | NM | / | / | / | / | / |
41/− | M | 12/8 | Generalized | Walk/16 | Unknown | CCD | / | / | / | / | / |
42/− | M | 7/3.3 | Generalized | Sit/18 | / | CCD | / | / | / | / | / |
43/AR | F | Birth/4 | Generalized | Walk/48 | / | CCD | / | / | / | / | / |
44/− | F | 8/7 | Generalized | Walk/60 | / | CCD | / | / | / | / | / |
45/− | M | 12/9 | Generalized/ | walk/13 | / | MmD | / | / | / | / | / |
46/− | M | 8/2 | Generalized | Walk/18 | Unknown | NM | / | / | / | / | / |
47/− | M | Birth/6 | Generalized | Walk/14 | Unknown | NM | / | / | / | / | / |
48/− | F | 12/5 | Generalized | Walk/18 | / | NM | / | / | / | / | / |
49/− | M | Birth/13 | Generalized | Walk/13 | / | CNM | / | / | / | / | / |
50/− | F | 12/4 | Generalized | Walk/18 | / | CNM | / | / | / | / | / |
51/− | F | Birth/2.6 | Generalized | Walk/18 | Unknown | CNM | / | / | / | / | / |
52/− | M | 12/2 | Generalized | Walk/16 | unknown | CFTD | / | / | / | / | / |
53/− | M | Birth/1.1 | Generalized | Roll/13 | / | CFTD | / | / | / | / | / |
54/− | M | Birth/0.8 | Generalized | Head up/10 | / | CFTD | / | / | / | / | / |
55/− | M | Birth/1.1 | Generalized | Sit/13 | / | CFTD | / | / | / | / | / |
56- | F | Birth/6 | Generalized | Walk/14 | / | CFTD | / | / | / | / | / |