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 DeCS Categories

C05 Musculoskeletal Diseases .
C05.651 Muscular Diseases .
C05.651.534 Muscular Disorders, Atrophic .
C05.651.534.500 Muscular Dystrophies .
C05.651.534.500.149 Glycogen Storage Disease Type VII .
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 .
C10.668.491.175 Muscular Disorders, Atrophic .
C10.668.491.175.500 Muscular Dystrophies .
C10.668.491.175.500.112 Glycogen Storage Disease Type VII .
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 .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.449 Glycogen Storage Disease .
C16.320.565.202.449.600 Glycogen Storage Disease Type VII .
C16.320.577 Muscular Dystrophies .
C16.320.577.149 Glycogen Storage Disease Type VII .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.449 Glycogen Storage Disease .
C18.452.648.202.449.600 Glycogen Storage Disease Type VII .
 
 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. .
0.61
543565
 
Glycogen Storage Disease Type VII .
Deficiency, Muscle Phosphofructokinase .
GSD VII .
Glycogen Storage Disease VII .
Muscle Phosphofructokinase Deficiency .
Pfkm Deficiency .
Tarui's Disease .
Deficiencies, Muscle Phosphofructokinase .
Deficiencies, Pfkm .
Deficiency, Pfkm .
Disease, Tarui .
Disease, Tarui's .
Muscle Phosphofructokinase Deficiencies .
Pfkm Deficiencies .
Phosphofructokinase Deficiencies, Muscle .
Phosphofructokinase Deficiency, Muscle .
Taruis Disease .
Glycogenosis 7 .
Tarui Disease .
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. .
0.58
095