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

Table 2 Inherited Muscle Disease subtype and diagnostic standard used

HM Type	Diagnostic standard	N° of cases
DM-1	Genetic confirmation	225
DM-1	Clinical phenotype + pedigree	97
FSHD	Genetic confirmation	32
FSHD	Clinical phenotype + pedigree	9
LGMD2	Genetic confirmation	27
LGMD2	Clinical phenotype + pedigree	4
LGMD2C	Clinical phenotype + muscle biopsy	2
OPMD	Genetic confirmation	5
EDMD	Genetic confirmation	5
DMD	Genetic confirmation	13
DMD	Clinical phenotype + muscle biopsy	2
BMD	Genetic confirmation	7
Dystroglycanopathies	Genetic confirmation	1
	Clinical phenotype + pedigree	1
	Clinical phenotype + muscle biopsy	1
Unclassified CMD	Clinical phenotype + muscle biopsy	2
GSD-II	Genetic confirmation	2
GSD-V	Genetic confirmation	4
GSD-V	Clinical phenotype + muscle biopsy	2
Unclassified GSD	Clinical phenotype + muscle biopsy	2
Lipid storage disease	Genetic confirmation	1
Central Core	Clinical phenotype + muscle biopsy	2
Myosin storage myopathy	Genetic confirmation	2
Myosin storage myopathy	Clinical phenotype + muscle biopsy	1
Nemaline myopathy	Genetic confirmation	1
Nemaline myopathy	Clinical phenotype + muscle biopsy	2
Fibre type disproportion	Clinical phenotype + muscle biopsy	3
Zaspopathy	Genetic confirmation	4
Zaspopathy	Clinical phenotype + pedigree	2
Distal myopathies	Clinical phenotype + magnetic resonance imaging patterns	3

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.

ISSN: 1750-1172