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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

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Myotonia Congenita  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

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

En otras lenguas

URI

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

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