TABLE 2.

Characteristics of myoadenylate deaminase-deficient cases without myositis.

	Year of diagnosis	Histological diagnosis other than MAD-deficiency	Documented clinical diagnosis	Peak CK (U/L)
1	2005	Normal muscle	Undefined neuromuscular disorder	1,000
2	2006	Possible muscular dystrophy	Muscular dystrophy (possible limb girdle, sporadic)	600
3	2007	Minor non-specific myopathic abnormalities	N/A	7,500
4	2007	Rhabdomyolysis (Differential diagnosis polymyositis)	Rhabdomyolysis; “autoimmune myositis” (minimal documentation beyond this label)	158,000
5	2007	Normal muscle	Alcohol related myopathy	40
6	2007	Normal muscle	Primary MAD deficiency	66
7	2007	Normal muscle	N/A	153
8	2007	Normal muscle	N/A	875
9	2009	Mild (non-specific) atrophic myopathic changes	Suspected genetic disorder (undefined)	721
10	2009	Normal muscle	Viral myopathy	3,000
11	2010	Normal muscle	N/A	N/A
12	2011	Denervation	Spinal stenosis	86
13	2012	Features of chronic (subclinical) denervation, occasional necrotic and regenerative fibres of uncertain significance	Parkinsons disease	658
14	2013	Chronic denervation	Multiple sclerosis, spinal stenosis	345
15	2014	Hydroxychloroquine exposure (curvilinear bodies). Possible central core disease	Rheumatoid arthritis	637
16	2014	Normal muscle	Primary MAD deficiency	8,627
17	2015	Mild non-specific myopathic features	N/A	1,984
18	2015	Myofibrillar myopathy (eg myotilinopathy or filaminopathy)	N/A	71
19	2016	Normal muscle	N/A	154
20	2017	Non-specific myopathic changes without inflammation or necrosis	Primary MAD deficiency; Rheumatoid arthritis	346
21	2017	Denervation	Motor neuron disease	1,853
22	2020	Non-specific moderate myopathic features with scattered necrotic fibres. Some COX negative fibres (can raise possibility of a mitochondrial myopathy)	Undefined myopathy	937

CK, creatine kinase; MAD, myoadenylate deaminase.