The clinical symptoms for a diagnosis of EDMD are: limb muscle wasting and/or weakness and elbow or neck/spine joint contractures and a hemizygous pathogenic variant in EMD or FHL1; a heterozygous pathogenic variant in LMNA; or biallelic pathogenic variants in LMNA identified by molecular genetic testing [11]. Here, FHL1 is linked to Emery-Dreifuss muscular dystrophy.