congenital merosin-deficient muscular dystrophy 1A

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in hom

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Hypotonia
• Motor delay
• Muscle weakness
• Flexion contracture
• Areflexia
• Muscular dystrophy
• Increased endomysial connective tissue
• Feeding difficulties in infancy
• Hypointensity of cerebral white matter on MRI

Also known as: CMD1A; MDC1A; Merosin-negative congenital muscular dystrophy; congenital muscular dystrophy due to laminin alpha2 deficiency