Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. The disease is MONDO_0013178 (congenital muscular dystrophy due to LMNA mutation). Also known as: L-CMD, LMNA congenital muscular dystrophy, LMNA-related congenital muscular dystrophy, congenital muscular dystrophy LMNA-related, congenital muscular dystrophy caused by mutation in LMNA, muscular dystrophy Congenital, LMNA-related, muscular dystrophy, congenital.