Congenital muscular dystrophy due to LMNA mutation

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.

Also known as: L-CMD, LMNA congenital muscular dystrophy, LMNA-related congenital muscular dystrophy, congenital muscular dystrophy caused by mutation in LMNA, muscular dystrophy Congenital, LMNA-related, muscular dystrophy, congenital, MDCL, muscular dystrophy, congenital, LMNA-related

41 clinical trials for this condition and its sub-types.