Myotonic Dystrophy

Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

Also Known As:

Dystrophia Myotonica; Myotonia Atrophica; Proximal Myotonic Myopathy; Myotonia Dystrophica; Steinert Disease; Congenital Myotonic Dystrophy; Dystrophia Myotonica 1; Dystrophia Myotonica 2; Myotonic Dystrophy 1; Myotonic Dystrophy 2; PROMM (Proximal Myotonic Myopathy); Ricker Syndrome; Steinert Myotonic Dystrophy; Steinert's Disease; Atrophica, Myotonia; Atrophicas, Myotonia; Congenital Myotonic Dystrophies; Disease, Steinert; Disease, Steinert's; Dystrophia Myotonica 2s; Dystrophia Myotonicas; Dystrophica, Myotonia; Dystrophicas, Myotonia; Dystrophies, Congenital Myotonic; Dystrophies, Myotonic; Dystrophy, Congenital Myotonic; Dystrophy, Myotonic; Dystrophy, Steinert Myotonic; Myopathies, Proximal Myotonic; Myopathy, Proximal Myotonic; Myotonia Atrophicas; Myotonia Dystrophicas; Myotonic Dystrophies; Myotonic Dystrophies, Congenital; Myotonic Dystrophy, Steinert; Myotonic Myopathies, Proximal; Myotonica, Dystrophia; Myotonicas, Dystrophia; PROMMs (Proximal Myotonic Myopathy); Proximal Myotonic Myopathies; Steinerts Disease; Syndrome, Ricker; Myotonic Dystrophy, Congenital; Myotonic Myopathy, Proximal

Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Atrophic Muscular Disorders: 327
    - Muscular Dystrophies: 5839
      - Myotonic Dystrophy: 2418
  - Myotonic Disorders: 191
    - Myotonic Dystrophy: 2418
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Myotonic Dystrophy: 2418
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - Atrophic Muscular Disorders: 327
      - Muscular Dystrophies: 5839
        Myotonic Dystrophy: 2418
    - Myotonic Disorders: 191
      - Myotonic Dystrophy: 2418
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Muscular Dystrophies: 5839
    - Myotonic Dystrophy: 2418
  - Nervous System Heredodegenerative Disorders: 62
    - Myotonic Dystrophy: 2418

Gráinne Gorman Selected Research

Gráinne Gorman Research Topics

Disease

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Therapy/Procedure