Table 1.
Prevalence of Myopathies and Dystrophies; histological and biochemical disease characteristics
| Condition | Biochemical imbalance | Phenotype | Prevalence per 100.000 | References |
| Muscular dystrophies | ||||
| Duchenne Muscular Dystrophy (DMD) | Increased CK, MMP1, MMP2, MMP7, MMP9, fibronectin Cathepsins H and L | Fibrosis, inflammation, muscle wasting, fat substitution | 8–29 (males) | [1, 34, 36, 37, 112] |
| Becker Muscular Dystrophy (BMD) | 7–29 (males) | |||
| Limb-Girdle Muscular Dystrophy (LGMD) | Heterogenous (absence of proteins, dysfunctional interactions etc.) | Atrophy, endomysial fibrosis, inflammation in some cases | 0.8–2.3 | [43, 113, 114] |
| Facioscapulohumeral dystrophy | DUX4 expression in muscle | Fibrosis, perivascular infiltration, endomysial inflammation | 5 | [14, 17, 115, 116] |
| Inflammatory Myopathies | ||||
| Polymyositis (PM) | Pro-/inflammatory markers increased | Acute inflammatory onset (responsive to immunomodulation), muscle fiber atrophy, lung fibrosis | 6.3-7.1 | [117–119] |
| Dermatomyositis (DM) | 6.3 | |||
| Inclusion Body Myositis (IBM) | Chronic inflammation, muscle fiber atrophy, lung fibrosis (rare) | 1.5 (general population) 5.1 (people >50 years ol d) | [120] | |
| Congenital myopathies | Heterogeneous | Central nucleated fibers, Type I muscle fiber prevalence. rare inflammation | 6 (per live births) | [121, 122] |