Table 1 Clinical and laboratory features in patients with selectively high aldolase
Patient No 1Patient No 2Patient No 3Patient No 4Patient No 5Patient No 6Patient No 7Patient No 8Patient No 9Patient No 10Patient No 11Patient No 12% Patients
Onset age (years)*38313760325546595551852
Sex (M:W)MMWMWWWWWMMM
Muscle
    Weakness45544445455550
    DistributionP+DP+DP+DPP+DP+D
    Discomfort-+++++++++++92
PulmonaryILD-ILDCPDILD-ILD---ILD-58
Joint pain-++++++-+++-75
Skin disorderSclWHR-GVHRGVH-R-MHR75
Raynaud’s------+-----8
Aldolase10211413131311121313911100
Creatine Kinase7199170252626277714325101580
ESR highn/a-+++n/a++n/a---56
ANA+-----1280160-n/a-n/a-20
EMGMM-MIMMIM-Mn/a--64
Systemic DxRDSEoVRAGVHEoGVHMGDMEoSFPN-92
Tx at evaluationAzaPLDAza-PLD-M,T-----
Corticosteroid responsen/a+P+MP+P+MP+P+MPn/a+P+P+Pn/a100
  • *Mean age was 41 years.

  • Weakness: strength of weakest muscles (MHC scale); P, proximal; D, distal.

  • Pulmonary: dyspnoea, cough or fibrosis; CPD, chronic obstructive pulmonary disease; ILD, interstitial lung disease.

  • Skin disorder: Scl, scleroderma; WH, poor wound healing; R, rash; GVH, graft vs host disease; MH, Mechanic’s hands.

  • Raynaud’s, Raynaud’s phenomenon.

  • Aldolase (U/l; highest level, normal ⩽8).

  • ESR high, erythrocyte sedimentation rate >20; −, negative/absent; n/a, not available.

  • ANA+, antinuclear antibody titre >1:80.

  • EMG, electromyography; M, myopathy; IM, irritable myopathy; −, normal.

  • Systemic Dx, systemic diagnosis; RDS, respiratory distress syndrome; Eo, eosinophilia; V, vasculitis; RA, rheumatoid arthritis; MG, myasthenia gravis; DM, dermatomyositis; SFPN, small fibre polyneuropathy of unknown aetiology.

  • Tx at evaluation, treatment at time of evaluation, testing and biopsy; Aza, azathioprine; PLD, prednisone low dose (10 mg/day); P, prednisone (50–100 mg/day at onset); M, mycophenolate; T, tacrolimus.

  • Corticosteroid response: marked reduction in pain or increased strength after treatment with indicated medication. MP, methylprednisolone intravenously (1 g/day for 5 days).