Table 1 Diagnostic criteria used for each Inherited Muscle Disease in our study
Hereditary muscle disease type | Diagnostic criteria |
|---|---|
Muscular Dystrophy | |
Myotonic dystrophy types 1 and 2 | Genetic confirmation or, characteristic clinical phenotype + a pathogenic mutation confirmed within the pedigree |
FSHD, LGMD, OPMD, EDMD | Genetic confirmation or, characteristic clinical phenotype + a pathogenic mutation confirmed within the pedigree |
Dystrophinopathies | Genetic confirmation or, |
DMD | characteristic clinical phenotype + absence of dystrophin in Western blot |
CMD | Genetic confirmation or, |
Dystroglycanopathies | characteristic clinical phenotype + muscle biopsy with loss of α-dystroglycan [25] |
Unclassified | characteristic clinical phenotype with onset < 2 years + muscle biopsy with dystrophic pattern |
Metabolic Myopathies | |
Glycogen storage disease | Genetic confirmation or, |
GSD-V | characteristic clinical phenotype + increased serum CK + muscle biopsy with vacuoles with glycogen deposition and absence of myophosphorylase activity [26] |
Unclassified | Characteristic clinical phenotype + increased in serum CK + muscle biopsy with glycogen deposition |
Disorders of glycogen degradation | Genetic confirmation |
Lipid storage disease | Genetic confirmation |
Congenital myopathies | |
Central core | Genetic confirmation or, clinical phenotype + muscle biopsy with cores with devoid of oxidative enzyme activity and type 1 fibre predominance [27] |
Centronuclear | Genetic confirmation or, clinical phenotype + muscle biopsy with central nuclei [28] |
Myosin storage myopathy | Genetic confirmation or, clinical phenotype + muscle biopsy with sarcomeric aggregation of myosin rod filaments [29] |
Nemaline myopathy | Genetic confirmation or, clinical phenotype + muscle biopsy with rod-like structures in muscle fibres [30] |
Fibre type disproportion | Genetic confirmation or, clinical phenotype + muscle biopsy with type 1 fibre diameter at least 35–40% smaller than type 2 fibres diameter in the absence of other structural abnormalities [31] |
Myofibrillar myopathies | Genetic confirmation |
Distal myopathies | Genetic confirmation or, clinical phenotype + myopathic findings on muscle biopsy + myopathic findings on electromyography + magnetic resonance imaging patterns [32] |
Unclassified myopathies | Congenital onset and normal or mildly elevated CK levels or, adult onset proximal weakness + significantly elevated CK and possible recessive inheritance or, myopathy + prominent contractures |