Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

  • Aide
aligner
annoter
télécharger

Concept information

Musculoskeletal Diseases > Muscular Diseases > Myotonic Disorders > Myotonia Congenita
Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Myotonic Disorders > Myotonia Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Myotonia Congenita
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Myotonia Congenita

Terme préférentiel

Myotonia Congenita  

Type

  • mesh:Descriptor

Définition

  • Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.

Concept générique

Synonyme(s)

  • Batten Turner Congenital Myopathy
  • Batten-Turner Congenital Myopathy
  • Congenital Myotonia
  • Myopathy, Congenital
  • Myotonia, Generalized

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-NL9RS9GS-9

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 08/07/2013