loading...| Preferred Name | Myotonia Congenita | |
| Synonyms |
Generalized Myotonias Myotonia Congenita, Autosomal Dominant Disease, Becker Thomsens Disease Becker Disease Disease, Thomsen's Generalized Myotonia of Thomsen Myotonia, Generalized, Becker Thomsen Disease Generalized Myotonia of Becker Becker Generalized Myotonia Thomsen's Disease Disease, Thomsens Myopathy, Congenital Myotonias, Generalized Congenital Myotonia Thomsen Generalized Myotonia Myotonia Levior Batten Turner Congenital Myopathy Myotonia, Generalized Disease, Thomsen Myotonia, Becker Generalized Generalized Myotonia, Becker Generalized Myotonia Batten-Turner Congenital Myopathy Myotonia Congenita, Autosomal Recessive |
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| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009224 |
|
| altLabel |
Generalized Myotonias Myotonia Congenita, Autosomal Dominant Disease, Becker Thomsens Disease Becker Disease Disease, Thomsen's Generalized Myotonia of Thomsen Myotonia, Generalized, Becker Thomsen Disease Generalized Myotonia of Becker Becker Generalized Myotonia Thomsen's Disease Disease, Thomsens Myopathy, Congenital Myotonias, Generalized Congenital Myotonia Thomsen Generalized Myotonia Myotonia Levior Batten Turner Congenital Myopathy Myotonia, Generalized Disease, Thomsen Myotonia, Becker Generalized Generalized Myotonia, Becker Generalized Myotonia Batten-Turner Congenital Myopathy Myotonia Congenita, Autosomal Recessive |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0270959 C0027127 C2936781 C0751360 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19660101 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564967 http://purl.bioontology.org/ontology/MESH/C538353 |
|
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C10.574.500.545 C10.668.491.606.500 C16.320.400.540 C05.651.662.500 |
|
| notation |
D009224 |
|
| prefLabel |
Myotonia Congenita |
|
| TERMUI |
T802072 T769834 T372042 T801318 T801317 T027503 T372045 T842108 T372041 T372046 T027501 T027502 T027500 T372043 T372044 T769835 T769833 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1966) UNK (19XX) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |