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Concept information

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

Terme préférentiel

Muscular Dystrophy, Duchenne  

Type

  • mesh:Descriptor

Définition

  • An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Concept générique

Concepts associés

Synonyme(s)

  • Cardiomyopathy, Dilated, 3B
  • Cardiomyopathy, Dilated, X-Linked
  • Childhood Muscular Dystrophy, Pseudohypertrophic
  • Childhood Pseudohypertrophic Muscular Dystrophy
  • Duchenne Muscular Dystrophy
  • Duchenne-Type Progressive Muscular Dystrophy
  • Muscular Dystrophy, Childhood, Pseudohypertrophic
  • Muscular Dystrophy, Duchenne Type
  • Muscular Dystrophy, Pseudohypertrophic
  • Muscular Dystrophy, Pseudohypertrophic, Childhood
  • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
  • Progressive Muscular Dystrophy, Duchenne Type
  • Pseudohypertrophic Childhood Muscular Dystrophy
  • Pseudohypertrophic Muscular Dystrophy, Childhood

Qualificatif(s) autorisé(s)

Traductions

  • Myopathie de Duchenne

    français

  • DMD (Dystrophie Musculaire de Duchenne)
  • Dystrophie musculaire de Duchenne
  • Dystrophie musculaire progressive de Duchenne
  • Dystrophie musculaire pseudo-hypertrophique
  • Dystrophie musculaire pseudohypertrophique
  • Maladie de Duchenne
  • Myopathie pseudo-hypertrophique de Duchenne de Boulogne
  • Myopathie pseudohypertrophique de Duchenne de Boulogne
  • Paralysie pseudohypertrophique type Duchenne

URI

http://data.loterre.fr/ark:/67375/JVR-X1V1J4G1-Q

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RDF/XML TURTLE JSON-LD Date de création 08/11/1999, dernière modification le 08/07/2013