Question: How many people are affected by LAMA2-related muscular dystrophy ?
Answer: The prevalence of early-onset LAMA2-related muscular dystrophy is estimated at 1 in 30,000 individuals. This condition accounts for between 30 and 40 percent of total cases of congenital muscular dystrophy, although its contribution may be higher or lower than this range in specific populations. Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown.
Source: GHR

Question: What are the genetic changes related to LAMA2-related muscular dystrophy ?
Answer: As its name suggests, LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene. This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene. The LAMA2 gene provides instructions for the alpha-2 subunit. This subunit is found in the laminin 2 protein, also known as merosin; it is also part of another laminin protein called laminin 4. Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers. Most LAMA2 gene mutations that cause the severe, early-onset form of LAMA2-related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. Mutations that cause the milder, later-onset form usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2-related muscular dystrophy.
Source: GHR

Question: Is LAMA2-related muscular dystrophy inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR