/congenital muscular dystrophy due to LMNA mutation

congenital muscular dystrophy due to LMNA mutation

Rare Disease

MONDO:0013178

Also Known As

L-CMDLMNA congenital muscular dystrophyLMNA-related congenital muscular dystrophycongenital muscular dystrophy LMNA-relatedcongenital muscular dystrophy caused by mutation in LMNAmuscular dystrophy Congenital, LMNA-relatedmuscular dystrophy, congenitalMDCLmuscular dystrophy, congenital, LMNA-related

Definition

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.