Emery-Dreifuss Muscular Dystrophy

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.

Also Known As:

Scapuloperoneal Muscular Dystrophy; Muscular Dystrophy, Emery-Dreifuss; Autosomal Recessive Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery-Dreifuss Type Muscular Dystrophy; Muscular Dystrophy, Emery-Dreifuss Type; Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive; Muscular Dystrophy, Scapuloperoneal; Scapuloperoneal Myopathy, MYH7-Related; Autosomal Recessive Emery Dreifuss Muscular Dystrophy; Emery Dreifuss Muscular Dystrophy; Emery Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery Dreifuss Syndrome; MYH7-Related Scapuloperoneal Myopathy; Muscular Dystrophy, Emery Dreifuss; Myopathy, MYH7-Related Scapuloperoneal; Scapuloperoneal Myopathy, MYH7 Related; Emery-Dreifuss Syndrome

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Emery-Dreifuss Muscular Dystrophy: 288
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Emery-Dreifuss Muscular Dystrophy: 288
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Emery-Dreifuss Muscular Dystrophy: 288
  - X-Linked Genetic Diseases: 42
    - Emery-Dreifuss Muscular Dystrophy: 288

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S Martin Suarez Research Topics

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