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.
Synonyms: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, Muscular Dystrophy, Scapuloperoneal, Emery-Dreifuss Syndrome, Emery-Dreifuss Type Muscular Dystrophy, Emery Dreifuss Muscular Dystrophy, Muscular Dystrophy, Emery-Dreifuss, Scapuloperoneal Muscular Dystrophy, Scapuloperoneal Myopathy, MYH7-Related, Scapuloperoneal Myopathy, MYH7 Related, Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive, Emery Dreifuss Syndrome, Muscular Dystrophy, Emery Dreifuss, Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive, Autosomal Recessive Emery Dreifuss Muscular Dystrophy, Emery Dreifuss Muscular Dystrophy, Autosomal Recessive, Myopathy, MYH7-Related Scapuloperoneal, Emery-Dreifuss Muscular Dystrophy, MYH7-Related Scapuloperoneal Myopathy, Muscular Dystrophy, Emery-Dreifuss Type
Instance information
2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL see MUSCULAR DYSTROPHIES 2000-2004 ,2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL use MUSCULAR DYSTROPHIES 2000-2004
D020389