loading...| Preferred Name |
Myotonia Congenita |
| Synonyms |
Becker Disease |
| 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 |
Becker Disease Thomsen Disease Generalized Myotonia of Thomsen Disease, Thomsens Batten-Turner Congenital Myopathy Disease, Becker Thomsen's Disease Congenital Myotonia Myopathy, Congenital Thomsens Disease Disease, Thomsen's Myotonia, Generalized Myotonia, Generalized, Becker Batten Turner Congenital Myopathy Disease, Thomsen Generalized Myotonia Generalized Myotonias Becker Generalized Myotonia Generalized Myotonia of Becker Thomsen Generalized Myotonia Myotonia Congenita, Autosomal Dominant Myotonias, Generalized Myotonia Levior Myotonia, Becker Generalized Generalized Myotonia, Becker 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 C0751360 C2936781 |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C536607 http://purl.bioontology.org/ontology/MESH/C538353 |
| MDA |
19990101 |
| MMR |
20130708 |
| MN |
C10.574.500.545 C16.320.400.540 C10.668.491.606.500 C05.651.662.500 |
| notation |
D009224 |
| prefLabel |
Myotonia Congenita |
| TERMUI |
T769835 T801318 T027501 T372045 T802072 T769834 T027503 T769833 T372044 T801317 T372046 T372043 T372042 T027500 T842108 T372041 T027502 |
| TH |
NLM (2011) UNK (19XX) NLM (2000) NLM (1966) NLM (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |