Muscular dystrophy congenital, merosin negative [Supplementary Concept]
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
Date introduced: August 25, 2010
MeSH Unique ID: C537384
Heading Mapped to:
Entry Terms:
- Muscular Dystrophy, Congenital Merosin-Deficient, 1A
- Muscular dystrophy, congenital, merosin-deficient 1A
- Muscular Dystrophy, Congenital Merosin-Deficient
- Merosin-negative congenital muscular dystrophy
- Merosin-deficient congenital muscular dystrophy