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

  • mesh:Descriptor

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.

Broader concept

Narrower concepts

Entry terms

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

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-V6VG3SXZ-9

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