Congenital Muscular Dystrophy (LAMA2)
Congenital muscular dystrophy (LAMA2-related) is caused by pathogenic variants in the gene LAMA2. This condition varies in severity, from a severe, early-onset form to a more mild, late-onset form. Symptoms of early-onset disease are apparent at birth or within a few months of birth. This form of the condition is characterized by delayed growth, feeding difficulties, muscle weakness, hypotonia, breathing problems, scoliosis, and joint contractures. Individuals often do not develop the ability to walk and have speech difficulties due to facial weakness. Symptoms of late-onset disease typically become apparent later in childhood or adulthood. This form of the condition is characterized by muscle weakness in the shoulders, upper arms, pelvic area, and thighs as well as joint contractures, scoliosis, and breathing problems. Individuals often have delayed motor development, but are generally able to walk without assistance. Life expectancy depends on the severity of the clinical manifestations. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.