Table 1 Clinical, paraclinical and muscle biopsy features in SLONM, and comparison with HIV-NM

Gender

35 m/33f ^a

18 m/9f

7 m/17f

m

f

f

f

f

f

m

f

m

f

f

f

13 m/2f ^a

Age at onset (mean/range) (y)

52/25–78 ^a

49/25–78

53/27–78

52

67

61

49

54

32

50

47

51

77

67

54

34/21–49 ^a

Age at examination (mean/range) (y)

56/27–79

51/26–75

58/34–79

55

72

67

49

79

34

51

48

52

79

79

60

34/21–49

Duration until diagnosis (mean/range) (y)

4/0–32

2/0–7

4/0–32

3

5

5

4

25

3

1

3

1

2

2

6

1/0–4

Stable/slow progression

42/50 84%

9/18 50%

17/17 100%

+

+

+

+

+

+

+

-

-

+

+

+

6/10 60%

Rapid progression

8/50 16%

9/18 50%

0/16 0%

-

-

-

-

-

-

-

+

+

-

-

-

3/10 40%

Preceding autoimmune diseases

8/76 11%

1/27 4%

5/24 21%

-

-

+

-

-

-

-

-

-

+

-

-

0/15 0%

  Neck extensor

31/56 (55)

15/25 (60)

9/20 (45)

-

-

-

+

-

-

+

+

-

-

+

+

3/3 (100)

  Neck flexor

22/36 (61)

6/11 (55)

8/13 (62)

-

-

-

-

+

-

+

+

-

-

+

+

1/1 (100)

  Abdominal/back

17/25 (68)

8/10 (80)

6/9 (67)

-

-

+

-

-

-

+

+

-

+

+

-

2/2 (100)

  Upper limbs

43/52 (83)

19/19 (100)

11/17 (65)

+

-

+

+

-

-

+

+

+

-

+

-

11/11 (100)

  Lower limbs

40/49 (82)

17/18 (94)

9/15 (60)

+

+

+

-

+

-

-

+

+

-

+

-

8/8 (100)

  Proximal

59/64 (92)

27/27 (100)

18/23 (78)

+

-

+

+

+

-

+

+

+

-

+

-

15/15 (100)

  Predominantly proximal

43/59 (73)

25/27 (93)

14/18 (78)

+

-

+

+

+

-

+

+

+

-

+

-

14/15 (93)

  Distal

31/59 (53)

11/22 (50)

10/23 (44)

+

+

-

-

-

-

-

+

-

-

+

-

4/15 (27)

  Predominantly distal

4/31 (13)

0/11 (0)

2/10 (20)

-

+

-

-

-

-

-

-

-

-

-

-

0/4 (0)

  Facial weakness

17/48 (35)

7/19 (37)

2/17 (12)

-

-

-

-

-

-

-

-

-

-

-

+

0/4 (0)

Ophthalmoparesis

1/21 (5)

0/7 (0)

1/8 (13)

-

-

-

-

-

-

-

-

-

-

-

+

0/4 (0)

Ptosis

2/16 (13)

1/6 (17)

1/8 (13)

-

-

-

-

-

-

-

-

-

-

-

+

0/4 (0)

Dysphagia

21/45 (47)

12/22 (55)

5/16 (31)

+

-

-

+

-

+

-

-

-

-

-

+

1/5 (20)

Dysarthria

6/17 (35)

4/8 (50)

1/7 (14)

+

-

-

-

-

-

-

-

-

-

-

+

0/0 (0)

Dyspnea

17/31 (55)

9/13 (69)

3/7 (43)

+

-

+

+

-

+

-

-

-

-

-

-

0/1 (0)

Muscle atrophy

47/53 (89)

23/24 (96)

15/18 (83)

+

-

-

+

-

-

+

-

+

+

+

+

6/6 (100)

Myalgia

20/47 (43) ^a

5/17 (29)

5/17 (29)

-

-

+

+

+

+

+

-

-

-

+

-

4/4 (100) ^a

Cramps

5/14 (36)

1/4 (25)

1/7 (14)

-

-

-

-

-

-

-

-

-

-

+

-

0/0 (0)

Fasciculations

2/13 (15)

1/6 (17)

0/7 (0)

-

-

-

-

-

-

-

-

-

-

-

-

0/0 (0)

Deep tendon reflexes:

 normal

15/38 (11)

6/12 (50)

5/13 (39)

-

-

-

+

+

+

-

+

-

+

-

-

5/8 (63)

 increased

4/38 (39)

1/12 (8)

2/13 (15)

-

-

-

-

-

-

-

-

+

-

-

+

0/8 (0)

 decreased or absent

19/38 (50)

5/12 (42)

6/13 (46)

+

+

+

-

-

-

+

-

-

-

+

-

3/8 (38)

IgG gammopathy present

27/51 (53)

27/27 (100)

0/24 (0)

+

-

-

+

NA

-

-

+

+

-

-

-

3/6 (50)

 kappa

14/27 (52)

14/27 (52)

0/24 (0)

+

-

-

-

NA

-

-

-

+

-

-

-

1/3 (33)

 lambda

11/27 (41)

11/27 (41)

0/24 (0)

-

-

-

+

NA

-

-

+

-

-

-

-

2/3 (67)

 kappa + lambda

1/27 (4)

1/27 (4)

0/24 (0)

-

-

-

-

NA

-

-

-

-

-

-

-

0/3 (0)

 multiple myeloma

1/27 (4)

1/27 (4)

0/20 (0)

-

-

-

-

NA

-

-

-

-

-

-

-

0/0 (0)

CK with mean/range [number of patients examined]

2.6/1–55 N [60/76]

1.5 N/1–4 N [24/27]

1.9 N/1–17 N [23/24]

N

N

2 N

3 N

NA

2 N

17 N

2 N

N

N

2 N

N

1.8 N/1–5 N [13/15]

Respiratory insufficiency

11/20 (55)

6/9 (67)

3/8 (38)

+

NA

-

+

-

+

-

-

-

-

-

-

0/0 (0)

Cardiomyopathy

3/19 (16)

1/5 (20)

2/7 (29)

-

NA

-

dil.

-

dil.

-

-

-

-

-

-

0/0 (0)

Electromyogram

 normal

2/63 (3)

0/27 (0)

2/21 (10)

-

-

-

-

-

-

-

-

-

+

-

-

0/12 (0)

 myopathic

53/63 (84)

24/27 (89)

16/21 (76)

-

+

-

+

+

+

+

+

+

-

+

+

12/12 (100)

 mixed

6/63 (10)

3/27 (11)

2/21 (10)

+

-

-

-

-

-

-

-

-

-

-

-

0/12 (0)

 neurogenic

2/63 (3)

0/27 (0)

1/21 (5)

-

-

+

-

-

-

-

-

-

-

-

-

0/12 (0)

Genetic panel analysis performed

-

+

-

-

-

+

+

-

-

+

+

+

Muscle biopsy:

VL

TA

VL

D

GM

D

QF

VL

QF

VL

BF

SC

% of rod containing cells with mean/range [number of patients with available data]

28/1–63 [36/76]

30/3–63 [12/27]

22/1–50 [14/24]

3

44

3

43

NA

24

NA

16

28

5

14

35

45/35–50 [3/15]

Intranuclear rods

4/24 (17)

2/9 (22)

0/9 (0)

-

-

-

-

NA

-

-

-

-

-

-

-

0/0 (0)

Muscle fiber atrophy

45/45 (100)

15/15 (100)

13/13 (100)

+

+

+

+

+

+

+

+

+

+

+

+

14/14 (100)

Internalized nuclei

27/37 (73)

10/13 (77)

5/11 (46)

+

+

+

+

+

-

-

+

-

-

-

-

7/7 (100)

Myofibrillar disintegration

21/24 (88)

8/8 (100)

6/9 (67)

+

+

-

+

NA

+

+

+

+

-

+

-

2/2 (100)

Lobulated/trabeculated fibers

17/33 (52)

7/14 (50)

9/19 (50)

-

+

-

+

+

-

-

-

-

-

-

+

1/1 (100)

Endomysial fibrosis

17/26 (65)

6/8 (75)

4/9 (44)

+

+

-

+

NA

+

-

+

-

-

-

+

1/1 (100)

Inflammatory infiltrates

9/53 (17)

3/17 (18)

2/22 (9)

-

-

-

-

-

-

-

-

-

-

-

-

6/14 (43)

Necrotic fibers

7/28 (25) ^a

3/10 (30)

2/12 (17)

+

-

-

-

NA

+

+

-

-

-

-

-

4/5 (80) ^a

Core-like areas

11/16 (69)

5/6 (83)

3/7 (43)

+

+

+

-

NA

-

+

+

+

-

-

-

0/0 (0)

Vacuolar changes

11/20 (55)

5/7 (71)

1/8 (13)

+

-

-

+

+

-

+

-

-

-

+/−

-

5/5 (100)

Mitochondrial changes

11/18 (61)

2/5 (40)

3/7 (17)

-

-

unsp.

-

+

-

-

+

-

unsp.

unsp.

-

1/2 (50)

Immunosuppressive agents

36/58 (12/36) ^a

19/24 (6/19)

9/17 (2/9)

+ (+)

-

-

+ (−)

-

-

+ (+)

+ (+)

+ (NA)

-

-

-

8/10 (8/8) ^a

Intravenous Immunoglobulins

11/58 (5/11)

7/24 (3/7)

4/17 (2/4)

-

-

-

-

-

-

+ (+)

-

-

-

-

-

2/10 (2/2)

Stem cell therapy

7/58 (6/7)

7/24 (6/7)

0/17 (0/0)

-

-

-

-

-

-

-

+ (+)

+ (NA)

-

-

-

0/10

Plasmapheresis

3/58 (1/3)

2/24 (0/2)

0/17 (0/0)

-

-

-

+ (−)

-

-

-

-

-

-

-

-

1/10 (1/1)

Noninvasive ventilation

3/58

0/24

2/17

+

-

-

-

-

+

-

-

-

-

-

-

0/10