[9] One such form is merosin-deficient congenital muscular dystrophy (MDC1A), which accounts for around one-third of all CMD cases and is caused by mutations in the LAMA2 gene on the 6q2 chromosome, encoding for the laminin-α2 chain.

[13] Another form in this group is Ullrich congenital muscular dystrophy, which is caused by mutations in the COL6A1, COL6A2 and COL6A3 genes that encode for three of the alpha chains making up Collagen VI.

[11][14] Collagen VI is important in muscle, tendon, and skin tissue, and functions to attach cells to the extracellular matrix.

[11][14] Another form of CMD is rigid spine congenital muscular dystrophy (RSMD1), or rigid spine syndrome, which is caused by mutations in the SELENON gene encoding for selenoprotein N.[13] The exact function of selenoprotein N is unknown, but it is expressed in the rough endoplasmic reticulum of skeletal muscle, heart, brain, lung, and placenta tissues, as well as at high levels in the diaphragm.

[13] RSMD1 is characterized by axial and respiratory weakness, spinal rigidity and scoliosis, and muscular atrophy, and while it is a rare form of CMD, SEPN1 mutations are observed in other congenital myopathies.

[9] Some of the most common forms of CMDs are dystroglycanopathies caused by glycosylation defects of α-dystroglycan (α-DG), which helps link the extracellular matrix and the cytoskeleton.

[12] The founder mutation of FCMD is a 3- kilo base pair retrotransposon insertion in the noncoding region of FKTN, leading to muscle weakness, abnormal eye function, seizures, and intellectual disability.

[13] Another phenotype, Muscle-eye-brain disease (MEB) is the dystroglycanopathy most prevalent in Finland, and is caused by mutations in the POMGnT1, FKRP, FKTN, ISPD, and TMEM5 genes.

[12][13] However, symptoms unique to MEB include glaucoma, atrophy of the optic nerves, and retinal generation.

[12][15] In terms of the mechanism of congenital muscular dystrophy, one finds that though there are many types of CMD the glycosylation of α-dystroglycan and alterations in those genes that are involved are an important part of this conditions pathophysiology[16] Muscle fibrosis and Joint contractures or fixed deformities are cardinal clinical signs of congenital muscular dystrophies.

[17][18] Dystroglycanopathies as Fukuyama Congenital Muscular Dystrophy have a relatively high likelihood for development of significant cardiac manifestations.

Additionally it is believed that therapy in speech, orthopedic and physical areas, would improve the person's quality of life.