Catalog

Emery-Dreifuss muscular dystrophy, autosomal recessive

No MMS code

Link to WHO Definition

Emery-Dreifuss muscular dystrophy, autosomal recessive – http://id.who.int/icd/entity/693767720

Autosomal recessive Emery-Dreifuss muscular dystrophy is clinically characterised 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.