TABLE 1.
Characteristics of myoadenylate deaminase (MAD)-deficient cases with myositis.
| Year of diagnosis | Histological diagnosis other than MAD-deficiency | Documented clinical diagnosis | Peak CK (U/L) | |
| 1 | 2015 | Necrotising myopathy | N/A | 20,000 |
| 2 | 2015 | Mild inflammatory myopathy (most in keeping with polymyositis/overlap myositis) | Inflammatory myopathy unspecified; Sjogren’s syndrome | 149 |
| 3 | 2015 | Inflammatory myopathy with overlapping features of necrotising myopathy | N/A | 5,636 |
| 4 | 2016 | Necrotising myopathy | N/A | 4,000 |
| 5 | 2016 | Necrotising myopathy | N/A | 5,100 |
| 6 | 2018 | Necrotising myopathy | Necrotising myopathy (HMGCR positive) | 8,000 |
| 7 | 2020 | Suggestive of dermatomyositis | Dermatomyositis (MDA5 positive); skin psoriasis treated with Risankizumab | 22 |
| 8 | 2020 | Necrotising myopathy; possible denervation | Myositis not otherwise specified (HMGCR positive) | 867 |
CK, creatine kinase; MAD, myoadenylate deaminase; HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase.