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Table 2 Inherited Muscle Disease subtype and diagnostic standard used

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

HM TypeDiagnostic standardN° of cases
DM-1Genetic confirmation225
Clinical phenotype + pedigree97
FSHDGenetic confirmation32
Clinical phenotype + pedigree9
LGMD2Genetic confirmation27
Clinical phenotype + pedigree4
LGMD2CClinical phenotype + muscle biopsy2
OPMDGenetic confirmation5
EDMDGenetic confirmation5
DMDGenetic confirmation13
Clinical phenotype + muscle biopsy2
BMDGenetic confirmation7
DystroglycanopathiesGenetic confirmation1
Clinical phenotype + pedigree1
Clinical phenotype + muscle biopsy1
Unclassified CMDClinical phenotype + muscle biopsy2
GSD-IIGenetic confirmation2
GSD-VGenetic confirmation4
Clinical phenotype + muscle biopsy2
Unclassified GSDClinical phenotype + muscle biopsy2
Lipid storage diseaseGenetic confirmation1
Central CoreClinical phenotype + muscle biopsy2
Myosin storage myopathyGenetic confirmation2
Clinical phenotype + muscle biopsy1
Nemaline myopathyGenetic confirmation1
Clinical phenotype + muscle biopsy2
Fibre type disproportionClinical phenotype + muscle biopsy3
ZaspopathyGenetic confirmation4
Clinical phenotype + pedigree2
Distal myopathiesClinical phenotype + magnetic resonance imaging patterns3
  1. DM-1 Myotonic dystrophy type 1, FSHD Facioscapulohumeral muscular dystrophy, LGMD Limb girdle muscular dystrophy, OPMD Oculopharyngeal muscular dystrophy, EDMD Emery-Dreifuss muscular dystrophy, DMD Duchenne muscular dystrophinopathy, CMD congenital muscular dystrophy, BMD Becker muscular dystrophinopathy, CMD Congenital muscle dystrophy, GSD Glycogen storage disease.