The group of congenital structural genetic muscle disorders includes all genes related to congenital myopathy and congenital muscular dystrophy.
Congenital myopathies comprise a group of disorders characterized by non-dystrophic morphological abnormalities on muscular biopsy. An approximate prevalence of 3.5-5/10 000 live births has been estimated (Sharma et al., 2009). Most of these diseases manifest at birth or shortly thereafter with hypotonia, delay in motor development, and static or non-progressive weakness. Although these symptoms may be present since birth, diagnosis is often not reached until well into childhood or even in adulthood, since many of these signs may go unnoticed.
On the other hand, congenital muscular dystrophies, despite showing symptoms from birth, usually have a more severe and progressive development and are characterized by the presence of muscular dystrophy on biopsy.