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Table 1 Review of reported cases of dysferlinopathy misdiagnosed with polymyositis

From: Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review

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]

  1. NS not specified; PM polymyositis; IM inflammatory myopathy; CCS corticosteroids; AZA azathioprine; IVIg intravenous gamma globulin; MTX methotrexate; IFX infliximab; CYC cyclophosphamide; CSA cyclosporine; IMMs immunosuppressants; RTX rituximab; IVMP intravenous methylprednisolone; MMF mycophenolate mofetil; IHC immunohistochemistry; WB Western blot; MD molecular diagnosis; MMD1 miyoshi muscular dystrophy-1; LGMDR2 limb girdle muscular dystrophy 2B; DEX dexamethasone