congenital muscular dystrophy due to LMNA mutation

A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.

Signs and symptoms

• Poor head control
• Hypotonia
• Distal muscle weakness
• Muscle fiber atrophy
• Axial muscle weakness
• Proximal muscle weakness
• Spinal rigidity
• Delayed ability to roll over
• Delayed ability to walk
• Upper limb muscle weakness

Also known as: L-CMD; LMNA-related congenital muscular dystrophy; congenital muscular dystrophy LMNA-related