muscular dystrophy-dystroglycanopathy type B6

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chrom

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.

Signs and symptoms

• Achilles tendon contracture
• Elevated circulating creatine kinase activity
• Profound intellectual disability
• Hypotonia
• Abnormal periventricular white matter morphology
• Delayed ability to sit
• Proximal muscle weakness
• Pachygyria
• Decreased light- and dark-adapted electroretinogram amplitude
• Babinski sign

Also known as: MDC1D; MDDGB6; congenital muscular dystrophy LARGE-related; congenital muscular dystrophy type 1D; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6