Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Muscular Dystrophy, Emery-Dreifuss

Preferred term

Muscular Dystrophy, Emery-Dreifuss  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Entry terms

  • Emery Dreifuss Muscular Dystrophy
  • Emery-Dreifuss Muscular Dystrophy
  • Emery Dreifuss Syndrome
  • Emery-Dreifuss Syndrome
  • Emery-Dreifuss Type Muscular Dystrophy
  • Muscular Dystrophy, Emery-Dreifuss Type

Scope note

  • 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.

History note

  • 2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL use MUSCULAR DYSTROPHIES 2000-2004

In other languages

  • Emery-Dreifussin lihasdystrofia

    Finnish

  • dystrophia Emery-Dreifuss
  • dystrophia musculorum Emery-Dreifuss
  • dystrophia musculorum scapuloperonealis cum contracturis praecocibus
  • EDMD
  • Emery-Dreifuss
  • Emery-Dreifussin oireyhtymä
  • Emery-Dreifussin syndrooma
  • hyvänlaatuinen skapuloperoneaalinen lihasdystrofia ominaispiirteenään varhain ilmenevät kontraktuurat
  • muskeldystrofi benign skapuloperoneal med tidiga kontrakturer (Emery-Dreifuss]
  • Emery-Dreifuss muskeldystrofi

    Swedish

  • Emery-Dreifuss syndrom
  • Scapuloperoneal muskeldystrofi

URI

http://www.yso.fi/onto/mesh/D020389

Download this concept:

RDF/XML TURTLE JSON-LD Created 11/8/99, last modified 2/21/20