MeSH 搜索器

Myotonia Congenita

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.
推出的年份:
副标题
树号: C05.651.662.500, C10.574.500.545, C10.668.491.606.500, C16.320.400.540
MeSH 单一 ID: D009224
进入的组:
  • Batten-Turner Congenital Myopathy
  • Myotonia, Generalized
  • Generalized Myotonia
  • Generalized Myotonias
  • Myotonias, Generalized
  • Congenital Myotonia
  • Batten Turner Congenital Myopathy
  • Myopathy, Congenital
  • Myotonia Levior
  • Generalized Myotonia of Thomsen
  • Thomsen Generalized Myotonia
  • Thomsens Disease
  • Disease, Thomsens
  • Thomsen's Disease
  • Disease, Thomsen's
  • Myotonia Congenita, Autosomal Dominant
  • Thomsen Disease
  • Disease, Thomsen
  • Becker Generalized Myotonia
  • Generalized Myotonia, Becker
  • Myotonia, Becker Generalized
  • Myotonia, Generalized, Becker
  • Myotonia Congenita, Autosomal Recessive
  • Becker Disease
  • Disease, Becker
  • Generalized Myotonia of Becker

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