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.
MONDO:0019950
congenital muscular dystrophy
is_a
L-CMD
exact
LMNA congenital muscular dystrophy
exact
LMNA-related congenital muscular dystrophy
exact
MDCL
related
congenital muscular dystrophy caused by mutation in LMNA
exact
muscular dystrophy Congenital, LMNA-related
exact
muscular dystrophy, congenital
exact
muscular dystrophy, congenital, LMNA-related
related