Table 1.
Clinical, paraclinical and muscle biopsy features in SLONM, and comparison with HIV-NM
| SLONM | HIV-NM | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All SLONM cases (76) | With gammopathy (27/76) | Without gammopathy (24/76) | P 1 | P 2 | P 3 | P 4 | P 5 | P 6 | P 7 | P 8 | P 9 | P 10 | P 11 | P 12 | All HIV-NM cases (15) | |
| History: | ||||||||||||||||
| 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% |
| Clinical features (in %): | ||||||||||||||||
| Weakness: | ||||||||||||||||
| 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) |
| Paraclinical examination (in %): | ||||||||||||||||
| 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) |
| Therapy (and favorable outcome): | ||||||||||||||||
| 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 |
In bold, statistically significant differences between SLONM with and without monoclonal gammopathy are indicated
HIV-NM HIV-associated nemaline myopathy, m male, f female, y years, + symptom/feature present, NA not available, − symptom/feature not present, IgG immunoglobulin G, CK serum creatine kinase, N normal value (men <190 U/l, women <170 U/l), dil. dilated cardiomyopathy, VL musculus vastus lateralis, TA musculus tibialis anterior, D musculus deltoideus, GM musculus gluteus medius, QF musculus quadriceps femoris, BF musculus biceps femoris, SC musculus sternocleidomastoideus, unsp. unspecific mitochondrial changes
a indicates statistically significant differences between all SLONM cases and HIV-NM