Congenital muscular dystrophy type 1A (MCD1A) is a rare disease, which is one of a group of neuromuscular disorders with onset at birth or infancy and distinguished through hypotonia, muscle weakness and muscle wasting. MCD1A stands for 30-40% of congenital muscular dystrophies with a prevalence of 1 in 30,000.
Since merosin deficiency can be identified in the muscle and skin, the disease is diagnosed through obtaining a muscular biopsy. Prenatal diagnosis can be performed at the ninth week through chorionic villus sampling for an indication of merosin deficiency and any mutations of LAMA2 gene.