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Disease Myotonia Congenita

Name Myotonia Congenita
Synonyms Batten Turner Congenital Myopathy | Batten-Turner Congenital Myopathy | Becker Disease | Becker Generalized Myotonia | Congenital Myotonia | Disease, Becker | Disease, Thomsen | Disease, Thomsens | Disease, Thomsen's | Generalized Myotonia | Generalized Myotonia, Becker | Generalized Myotonia of Becker | Generalized Myotonia of Thomsen | Generalized Myotonias | Myopathy, Congenital | Myotonia, Becker Generalized | Myotonia Congenita, Autosomal Dominant | Myotonia Congenita, Autosomal Recessive | Myotonia, Generalized | Myotonia, Generalized, Becker | Myotonia Levior | Myotonias, Generalized | Thomsen Disease | Thomsen Generalized Myotonia | Thomsen's Disease | Thomsens Disease
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 channel are associated with the disorders.
Categories Genetic disease (inborn) | Musculoskeletal disease | Nervous system disease
MeSH® ID D009224
OMIM® IDs 255300 | 255700
External Links
DO
DOID:2106

Top ↑ Ancestors

1. Diseases ← Musculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references ← Muscular Diseases Has associated chemicals Has associated genes ← Myotonic Disorders Has associated chemicals Has associated genes ← Myotonia Congenita Has associated chemicals Has associated genes
2. Diseases ← Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references ← Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references ← Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes ← Myotonia Congenita Has associated chemicals Has associated genes
3. Diseases ← Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references ← Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references ← Muscular Diseases Has associated chemicals Has associated genes ← Myotonic Disorders Has associated chemicals Has associated genes ← Myotonia Congenita Has associated chemicals Has associated genes
4. Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references ← Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references ← Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes ← Myotonia Congenita Has associated chemicals Has associated genes

Top ↑ Descendants

Myotonia Congenita Has associated chemicals Has associated genes
  Brody myopathy Has associated chemicals Has associated genes
  MYOTONIA CONGENITA, AUTOSOMAL DOMINANT Has associated chemicals Has associated genes
  Myotonia with Skeletal Abnormalities and Mental Retardation
  Native American myopathy
  Potassium aggravated myotonia Has associated chemicals Has associated genes