Myotonia Congenita [myotonia congenita]
- Terms
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ataxia muscularis
autozomálně dominantní myotonia congenita
Beckerova choroba
Beckerova forma MC
Beckerova kongenitální myotonie
Beckerova nemoc
generalizovaná myotonie
kongenitální myotonie
myotonia congenita, autozomálně dominantní
myotonia congenita, Beckerova forma
myotonia congenita, Thomsenova forma
myotonia levior
Thomsenova choroba
Thomsenova forma MC
Thomsenova kongenitální myotonie
Thomsenova nemoc
Thomsenův syndrom
vrozená myotonie
vrozená myotonie dominantní, Thomsenova
vrozená recesivní myotonie, Beckerova
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Batten Turner Congenital Myopathy
Batten-Turner Congenital Myopathy
Becker Disease
Becker Generalized Myotonia
Congenital Myotonia
Generalized Myotonia of Becker
Generalized Myotonia of Thomsen
Myopathy, Congenital
Myotonia Congenita, Autosomal Dominant
Myotonia Congenita, Autosomal Recessive
Myotonia Levior
Myotonia, Generalized
Myotonia, Generalized, Becker
Thomsen Disease
Thomsen's Disease
Thomsens 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.
- DUI
- D009224 MeSH Browser
- CUI
- M0014373
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 1
- CO
- complications
- DI
- diagnosis 9
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 6
- GE
- genetics 10
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology 5
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery 1
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology
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