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Table 1 Diagnostic criteria used for each Inherited Muscle Disease in our study

From: Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Hereditary muscle disease typeDiagnostic criteria
Muscular Dystrophy
 Myotonic dystrophy types 1 and 2Genetic confirmation or,
characteristic clinical phenotype + a pathogenic mutation confirmed within the pedigree
 FSHD, LGMD, OPMD, EDMDGenetic confirmation or,
characteristic clinical phenotype + a pathogenic mutation confirmed within the pedigree
 DystrophinopathiesGenetic confirmation or,
  DMDcharacteristic clinical phenotype + absence of dystrophin in Western blot
 CMDGenetic confirmation or,
  Dystroglycanopathiescharacteristic clinical phenotype + muscle biopsy with loss of α-dystroglycan [25]
  Unclassifiedcharacteristic clinical phenotype with onset < 2 years + muscle biopsy with dystrophic pattern
Metabolic Myopathies
 Glycogen storage diseaseGenetic confirmation or,
  GSD-Vcharacteristic clinical phenotype + increased serum CK + muscle biopsy with vacuoles with glycogen deposition and absence of myophosphorylase activity [26]
   UnclassifiedCharacteristic clinical phenotype + increased in serum CK + muscle biopsy with glycogen deposition
Disorders of glycogen degradationGenetic confirmation
 Lipid storage diseaseGenetic confirmation
Congenital myopathies
 Central coreGenetic confirmation or,
clinical phenotype + muscle biopsy with cores with devoid of oxidative enzyme activity and type 1 fibre predominance [27]
 CentronuclearGenetic confirmation or,
clinical phenotype + muscle biopsy with central nuclei [28]
 Myosin storage myopathyGenetic confirmation or,
clinical phenotype + muscle biopsy with sarcomeric aggregation of myosin rod filaments [29]
 Nemaline myopathyGenetic confirmation or,
clinical phenotype + muscle biopsy with rod-like structures in muscle fibres [30]
 Fibre type disproportionGenetic 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 myopathiesGenetic confirmation
 Distal myopathiesGenetic confirmation or,
clinical phenotype + myopathic findings on muscle biopsy + myopathic findings on electromyography + magnetic resonance imaging patterns [32]
 Unclassified myopathiesCongenital onset and normal or mildly elevated CK levels or,
adult onset proximal weakness + significantly elevated CK and possible recessive inheritance or,
myopathy + prominent contractures
  1. FSHD Facioscapulohumeral muscular dystrophy, LGMD Limg girdle muscular dystrophy, OPMD Oculopharyngeal muscular dystrophy, EDMD Emery-Dreifuss muscular dystrophy, DMD Duchenne muscular dystrophinopathy, CMD Congenital muscular dystrophy