loading...| Preferred Name |
Myotonia Congenita [Disease/Finding] |
|
| Synonyms |
Myotonia Congenita |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002098 |
|
| altLabel |
Myotonia Congenita Myopathy, Congenital Congenital Myotonia Batten Turner Congenital Myopathy Myotonia, Generalized Batten-Turner Congenital Myopathy |
|
| cui |
C0027127 |
|
| MESH 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. |
|
| MESH DUI |
D009224 |
|
| MeSH name |
Myotonia Congenita |
|
| MESH UI |
M0014373 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002098 |
|
| NUI |
N0000002098 |
|
| prefLabel |
Myotonia Congenita [Disease/Finding] |
|
| SNOMED CID |
57938005 |
|
| tui |
T047 |
|
| subClassOf |