Table 3

Phenotype of a novel scleromyositis subset associated with anti-SMN autoantibodies

Patient 3Patient 4Patient 8Patient 13Patient 14
Demographics
Age at myositis diagnosis, years6337242850
SexFemaleFemaleFemaleFemaleFemale
EthnicityCaucasianCaucasianCaucasianCaucasianCaucasian
Siblings with spinal muscular atrophyYNNNN
Laboratory
ANA titers1:51201:12801:12801:12801:640
SMN titers (ALBIA), positive >900 MFU10 34613 661743321 14619 750
SSc features
Definite SSc (ACR/EULAR)
At diagnosisYYYNN
At follow-upYYYYY
Cutaneous SSc subtype
At diagnosisLimitedLimitedLimitedSineSine
At follow-upDiffuseLimitedLimitedLimitedLimited
ACR/EULAR SSc features
Raynaud phenomenonYYYYY
Digital ulcersNNYNN
TelangiectasiasYYNYY
Abnormal capillaroscopyYNNNY
Proximal sclerodermaYNNNN
ILDNNNNY
Non ACR/EULAR SSc features
DLCO inferior to 70%NNNNY
Lower oesophageal dysmotilityProbableYProbableYY
Small-bowel involvementNYNNN
SSc-type calcinosisNYNYY
Bilateral trigeminal neuropathyYNNNN
Scleroderma renal crisisNNNNN
ArthritisYYNNY
Myopathic features
EULAR/ACR myological features
Objective proximal weakness (upper)YNYYY
Objective proximal weakness (lower)YYYYY
Neck flexors weaker than extensorsNNYYN
Proximal weaker than distal (lower)YYYYY
Objective oropharyngeal dysphagiaNNNNN
CK levels (IU/L) at myositis diagnosis25643675297414941738
Perimysial/perivascular inflammationNNNYY
EULAR/ACR not myositis criteriaYYNNN
  • 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.