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 DeCS Categories

C05 Musculoskeletal Diseases .
C05.651 Muscular Diseases .
C05.651.662 Myotonic Disorders .
C05.651.662.500 Myotonia Congenita .
C08 Respiratory Tract Diseases .
C08.846 Thoracic Diseases .
C10 Nervous System Diseases .
C10.574 Neurodegenerative Diseases .
C10.574.500 Heredodegenerative Disorders, Nervous System .
C10.574.500.545 Myotonia Congenita .
C10.668 Neuromuscular Diseases .
C10.668.491 Muscular Diseases .
C10.668.491.606 Myotonic Disorders .
C10.668.491.606.500 Myotonia Congenita .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.540 Myotonia Congenita .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Myotonia Congenita .
Batten Turner Congenital Myopathy .
Batten-Turner Congenital Myopathy .
Becker Disease .
Congenital Myotonia .
Generalized Myotonia of Becker .
Generalized Myotonia of Thomsen .
Myopathy, Congenital .
Myotonia Congenita, Autosomal Dominant .
Myotonia Congenita, Autosomal Recessive .
Myotonia Levior .
Myotonia, Generalized .
Thomsen's Disease .
Thomsens Disease .
Disease, Becker .
Disease, Thomsen .
Disease, Thomsen's .
Disease, Thomsens .
Generalized Myotonia .
Generalized Myotonia, Becker .
Generalized Myotonias .
Myotonia, Becker Generalized .
Myotonias, Generalized .
Thomsen Generalized Myotonia .
Thomsen Disease .
Becker Generalized Myotonia .
Myotonia, Generalized, Becker .
THOMSEN'S DISEASE .
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. .
1.00
14753
 
Thoracic Diseases .
Disease, Thoracic .
Diseases, Thoracic .
Thoracic Disease .
Disorders affecting the organs of the thorax. .
0.67
543565