- Concept UI
- M0014372
- Scope Note
- Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
- Terms
-
Myotonic Dystrophy
Preferred Term
Term UI
T027494
Date12/09/1991
LexicalTag
NON
ThesaurusID
-
Dystrophia Myotonica
Term UI
T027499
Date03/30/1974
LexicalTag
NON
ThesaurusID
-
Dystrophia Myotonica 1
Term UI
T853139
Date01/08/2014
LexicalTag
NON
ThesaurusID
-
Myotonia Atrophica
Term UI
T027495
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Myotonia Dystrophica
Term UI
T027498
Date05/02/1992
LexicalTag
NON
ThesaurusID
-
Myotonic Dystrophy 1
Term UI
T853140
Date01/08/2014
LexicalTag
NON
ThesaurusID
-
Steinert Disease
Term UI
T027496
Date09/04/1990
LexicalTag
EPO
ThesaurusID
-
Steinert Myotonic Dystrophy
Term UI
T853141
Date01/08/2014
LexicalTag
EPO
ThesaurusID
ORD (2010)
-
Steinert's Disease
Term UI
T027497
Date09/04/1990
LexicalTag
EPO
ThesaurusID
NLM (1992)