The spectrum of muscle diseases has been progressively expanding in recent decades thanks to advances in genetics. Although there are acquired causes of muscle disease (immunological, infectious, toxic, endocrine-metabolic), those with genetic causes constitute 80% of cases, with more than 300 known genes today.
As a whole, they are rare diseases, with a global prevalence of 1/3,500 newborns. The increase in survival and the appearance of new therapeutic targets have contributed to this group of pathologies’ increasing importance. It is worth remembering that, although they are chronic and usually progressive/degenerative diseases, more than 50% have their debut in childhood.
This panel includes a global approach to all genes related to genetically caused muscle diseases: structural and metabolic myopathies, congenital myasthenia, myotonia, and arthrogryposis.
