Patient 3 | Patient 4 | Patient 8 | Patient 13 | Patient 14 | |
---|---|---|---|---|---|
Demographics | |||||
Age at myositis diagnosis, years | 63 | 37 | 24 | 28 | 50 |
Sex | Female | Female | Female | Female | Female |
Ethnicity | Caucasian | Caucasian | Caucasian | Caucasian | Caucasian |
Siblings with spinal muscular atrophy | Y | N | N | N | N |
Laboratory | |||||
ANA titers | 1:5120 | 1:1280 | 1:1280 | 1:1280 | 1:640 |
SMN titers (ALBIA), positive >900 MFU | 10 346 | 13 661 | 7433 | 21 146 | 19 750 |
SSc features | |||||
Definite SSc (ACR/EULAR) | |||||
At diagnosis | Y | Y | Y | N | N |
At follow-up | Y | Y | Y | Y | Y |
Cutaneous SSc subtype | |||||
At diagnosis | Limited | Limited | Limited | Sine | Sine |
At follow-up | Diffuse | Limited | Limited | Limited | Limited |
ACR/EULAR SSc features | |||||
Raynaud phenomenon | Y | Y | Y | Y | Y |
Digital ulcers | N | N | Y | N | N |
Telangiectasias | Y | Y | N | Y | Y |
Abnormal capillaroscopy | Y | N | N | N | Y |
Proximal scleroderma | Y | N | N | N | N |
ILD | N | N | N | N | Y |
Non ACR/EULAR SSc features | |||||
DLCO inferior to 70% | N | N | N | N | Y |
Lower oesophageal dysmotility | Probable | Y | Probable | Y | Y |
Small-bowel involvement | N | Y | N | N | N |
SSc-type calcinosis | N | Y | N | Y | Y |
Bilateral trigeminal neuropathy | Y | N | N | N | N |
Scleroderma renal crisis | N | N | N | N | N |
Arthritis | Y | Y | N | N | Y |
Myopathic features | |||||
EULAR/ACR myological features | |||||
Objective proximal weakness (upper) | Y | N | Y | Y | Y |
Objective proximal weakness (lower) | Y | Y | Y | Y | Y |
Neck flexors weaker than extensors | N | N | Y | Y | N |
Proximal weaker than distal (lower) | Y | Y | Y | Y | Y |
Objective oropharyngeal dysphagia | N | N | N | N | N |
CK levels (IU/L) at myositis diagnosis | 2564 | 3675 | 2974 | 1494 | 1738 |
Perimysial/perivascular inflammation | N | N | N | Y | Y |
EULAR/ACR not myositis criteria | Y | Y | N | N | N |
ACR, American College of Rheumatology; ALBIA, addressable laser bead immunoassay; ANA, antinuclear antibody; CK, creatine kinase; DLCO, diffusing capacity of lung for carbon monoxide; GERD, gastro-oesophageal reflux disease; ILD, interstitial lung disease; NFU, median fluorescence units; N, no; SSc, systemic sclerosis; Y, yes.