Patient | Sex | Age at onset (years) | Age at diagnosis (years) | Time to diagnosis (years) | Initial diagnosis | Treatment | Outcome | Dysferlinopathy diagnosis | Phenotype | Reference | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
IHC | WB | MD | ||||||||||
1 | Male | 23.5 | 25 | 1.5 | IM | NS | NS | − | − | − | MMD1 | [22] |
2 | Female | 18 | 29 | 11 | PM | CCS | No response | − | − | − | MMD1 | [22] |
3 | Male | 17 | NS | NS | PM | CCS | No response | − | + | + | MMD1 | [20] |
4 | Male | 17 | NS | NS | PM | CCS | No response | − | + | + | MMD1 | [20] |
5 | Female | 32 | NS | NS | PM | CCS | No response | − | − | + | LGMDR2 | [20] |
6 | Male | 17 | NS | NS | PM | CCS | No response | − | + | + | LGMDR2 | [20] |
7 | Female | 32 | NS | NS | PM | CCS | No response | − | + | + | LGMDR2 | [20] |
8 | Male | 17 | 45 | 28 | PM | NS | NS | − | − | + | MMD1 | [24] |
9 | Female | 26 | 30 | 4 | IM | NS | NS | − | − | + | MMD1 | [24] |
10 | Male | 24 | 33 | 9 | PM | CCS, AZA | No response | + | + | − | LGMDR2 | [25] |
11 | Female | Third decade | 55 | NS | PM | CCS, AZA | No response | + | − | − | LGMDR2 | [26] |
12 | Female | 16 | 21 | 5 | PM | CCS, IVIg, MTX, IFX | No response | + | + | + | LGMDR2 | [27] |
13 | Female | 27 | 38 | 11 | PM | CCS, IVIg, MTX, CYC, CSA | Worsened | + | + | + | LGMDR2 | [16] |
14 | Male | 15 | 20 | 5 | IM | CCS, AZA, IVIg | No response | + | + | + | MMD1 | [28] |
15 | Male | 14 | 17 | 3 | PM | CCS, AZA, CSA, IVIg | N0 response | − | + | + | NS | [29] |
16 | Female | 18 | NS | NS | IM | CCS, IMMs | NS | + | − | − | LGMDR2 | [30] |
17 | Female | 33 | NS | NS | IM | CCS, IMMs | NS | + | − | − | LGMDR2 | [30] |
18 | Male | 21 | NS | NS | IM | CCS, IMMs | NS | + | − | − | MMD1 | [30] |
19 | Male | 20 | NS | NS | IM | CCS, IMMs | NS | + | − | − | MMD1 | [30] |
20 | NS | NS | NS | NS | PM | CCS | NS | + | + | + | MMD1 | [31] |
21 | Female | 50 | 54 | 4 | PM | CCS | No response | + | − | − | LGMDR2 | [32] |
22 | Female | 35 | 40 | 5 | PM | CCS, MTX, AZA, MMF, RTX | No response | − | + | + | LGMDR2 | [33] |
23 | Male | 37 | NS | NS | PM | CCS, CYC, MTX, AZA, IVIg | Progressed | + | − | − | LGMDR2 | [34] |
24 | Female | 17 | NS | NS | PM | CCS | No response | − | − | + | LGMDR2 | [35] |
25 | Female | 15 | 18 | 3 | PM | CCS, MTX, IVIg | Minimal improvement | − | − | + | MMD1/ LGMDR2 | [35] |
26 | Male | 23 | NS | NS | PM | CCS, IVMPD, MTX, AZA, IVIg | No response | − | + | + | MMD1/ LGMDR2 | [35] |
27 | Female | 32 | NS | NS | PM | CCS, MTX, AZA | Worsened | − | − | + | MMD1/ LGMDR2 | [35] |
28 | Male | 37 | 37 | 0 | IM | DEX | No response | + | - | - | MMD1 | [36] |
29 | Male | 16 | 19 | 3 | PM | CCS | Progressed | − | − | + | MMD1 | [37] |
30 | Female | 25 | 42 | 17 | PM | CCS, MTX, AZA, CSA, MMF, IVIg, RTX | Progressed | − | − | + | LGMDR2 | [38] |
31 | Female | 18 | 23 | 5 | PM | CCS, IMMs | Worsened | + | + | + | LGMDR2 | [39] |
32 | Female | 22 | 3 months after onset | 0.25 | IM | CCS,MTX | Progressed | + | − | + | LGMDR2 | [40] |