The spectrum of muscular diseases has been steadily expanded in the last few decades thanks to advances in the field of genetics. Even though acquired causes for muscular disease exist (immunologic, infectious, toxic, metabolic-endocrine), those with a genetic cause amount to 80% of cases, with 300 known genes to date.
As a whole, they are rare diseases, with a global prevalence of 1 in 3,500 live births. Increase in survival and the introduction of new therapeutic targets have contributed to the growing importance of this group of pathologies. It is worth noting that, even though they are chronic and usually progressive/degenerative diseases, over 50% of them begin during infancy.
The GMD comprehensive panel includes a global focus on all the genes related to genetically caused muscular diseases: structural and metabolic myopathies, congenital myasthenia, myotonia, and arthrogryposis.