Preferred Label : Emery-Dreifuss muscular dystrophy, autosomal dominant;
ICD-11 definition : Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic
disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The
disorder is characterised by the early onset of skeletal muscle weakness and joint
contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although
the pathophysiology is not understood, one theory suggests that disordered structural
organisation at weakened nuclei in contractile cells may underlie the disease.;
Origin ID : 15480497;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic
disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The
disorder is characterised by the early onset of skeletal muscle weakness and joint
contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although
the pathophysiology is not understood, one theory suggests that disordered structural
organisation at weakened nuclei in contractile cells may underlie the disease.
