Descriptors Found: 1
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Descriptor English:   Myotonia Congenita 
Descriptor Spanish:   Miotonía Congénita 
Descriptor Portuguese:   Miotonia Congênita 
Synonyms English:   Batten Turner Congenital Myopathy
Batten-Turner Congenital Myopathy
Becker Disease
Becker Generalized Myotonia
Congenital Myotonia
Disease, Becker
Disease, Thomsen
Disease, Thomsen's
Disease, Thomsens
Generalized Myotonia
Generalized Myotonia of Becker
Generalized Myotonia of Thomsen
Generalized Myotonia, Becker
Generalized Myotonias
Myopathy, Congenital
Myotonia Congenita, Autosomal Dominant
Myotonia Congenita, Autosomal Recessive
Myotonia Levior
Myotonia, Becker Generalized
Myotonia, Generalized
Myotonia, Generalized, Becker
Myotonias, Generalized
Thomsen Disease
Thomsen Generalized Myotonia
Thomsen's Disease
Thomsens Disease  
Tree Number:   C05.651.662.500
Definition English:   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. 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   9415 
Unique Identifier:   D009224 

Occurrence in VHL: