Preferred Label : Emery-Dreifuss muscular dystrophy, autosomal recessive;
ICD-11 definition : Autosomal recessive Emery-Dreifuss muscular dystrophy is clinically characterized
by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of
the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias.
It is caused by homozygous mutation in the LMNA gene on chromosome 1q21.;
Origin ID : 693767720;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Autosomal recessive Emery-Dreifuss muscular dystrophy is clinically characterized
by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of
the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias.
It is caused by homozygous mutation in the LMNA gene on chromosome 1q21.
