A hereditary, autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show HYPOTONIA, poor suck and cry, and delayed motor development; most can never walk independently. Most patients also have periventricular white matter abnormalities on NEUROIMAGING, but INTELLECTUAL DISABILITY and/or SEIZURES occur only rarely. Mutations in the LAMA2 gene have been identified. OMIM: 607855
Also Known As:
Muscular dystrophy congenital, merosin negative; Merosin-deficient congenital muscular dystrophy; Merosin-negative congenital muscular dystrophy; Muscular Dystrophy, Congenital Merosin-Deficient; Muscular Dystrophy, Congenital Merosin-Deficient, 1A; Muscular dystrophy, congenital, merosin-deficient 1A