World Of Taxonomy
D020389Level 6

Muscular Dystrophy, Emery-Dreifuss

**Definition:** A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.

**Tree numbers:** - C05.651.534.500.350 - C10.668.491.175.500.350 - C16.320.322.625 - C16.320.577.350

**Synonyms:** - Emery-Dreifuss Muscular Dystrophy - Emery-Dreifuss Syndrome - Emery-Dreifuss Type Muscular Dystrophy - Muscular Dystrophy, Emery-Dreifuss Type

GET/api/v1/systems/mesh/nodes/D020389
Official DownloadPublic Domain (US Government)Source

Hierarchy Explorer

Cross-system equivalences0

No cross-system equivalences mapped for this node.