Preferred Name |
Myotonia Congenita |
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Synonyms |
Maladie de Thomsen Myotonie congénitale de Thomsen congenital myotonia |
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Definitions |
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 chan (source : MSH) |
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ID |
http://doe-generated-ontology.com/OntoAD#C0027127 |
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altLabel |
Maladie de Thomsen Myotonie congénitale de Thomsen congenital myotonia Myotonia congenital Batten Turner Congenital Myopathy Myotonia, Generalized MYOTONIA CONGEN |
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definition |
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 chan (source : MSH) |
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disease_excludes_primary_anatomic_site | ||
disease_has_associated_anatomic_site | ||
disease_has_normal_tissue_origin | ||
hiddenLabel |
MyotonieCongénitale MyotoniaCongenita |
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prefixIRI |
OntoAD:C0027127 |
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prefLabel |
Myotonie congénitale Myotonia Congenita |
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subClassOf |