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.
What is congenital muscular dystrophy due to LMNA mutation?
congenital muscular dystrophy due to LMNA mutation is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.
If you think you may have congenital muscular dystrophy due to LMNA mutation, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with congenital muscular dystrophy due to LMNA mutation
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.