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DeCS
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Descriptor English:
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Myotonia Congenita
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Descriptor Spanish:
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Miotonía Congénita
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Descriptor Portuguese:
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Miotonia Congênita
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Synonyms English:
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Thomsen Disease
Becker Generalized Myotonia
Myotonia, Generalized, Becker
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Tree Number:
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C05.651.662.500
C10.574.500.545
C10.668.491.606.500
C16.320.400.540
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Definition English:
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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. |
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Allowable Qualifiers English:
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Record Number:
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9415
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Unique Identifier:
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D009224
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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