The group of congenital structural muscular diseases includes all genes associated with congenital myopathies and congenital muscular dystrophy forms.
Congenital myopathies make up a group of disorders characterized by non-dystrophic morphological anomalies on muscle biopsy. An estimated prevalence of 3.5-5 per 10,000 live births has been calculated (Sharma et al., 2009). The majority of diseases manifest themselves at birth, or later in the form of hypotonia, delayed motor skill acquisition, and static or non-progressive weakness. Often, even if these symptoms have been present since birth, the diagnosis is not obtained until late childhood or even adult age, since a lot of these signs can pass unnoticed.
On the other hand, congenital muscular dystrophies, even if they also present symptoms since birth, often have a more serious and progressive course and are characterized on biopsy by the presence of muscular dystrophy.
