Muscular Dystrophy, Emery-Dreifuss D020389

Related MeSH Hierarchy (4)

Diseases [C] » Musculoskeletal Diseases [C05] » Muscular Diseases » Muscular Disorders, Atrophic » Muscular Dystrophies » Muscular Dystrophy, Emery-Dreifuss

Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Muscular Diseases » Muscular Disorders, Atrophic » Muscular Dystrophies » Muscular Dystrophy, Emery-Dreifuss

Description

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.   MeSH

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