Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Muscular Dystrophies
Preferred term
Myotonic Dystrophy
Type
-
Topical Descriptor
Broader concept
Entry terms
- Atrophica, Myotonia
- Atrophicas, Myotonia
- Disease, Steinert
- Disease, Steinert's
- Dystrophia Myotonica
- Dystrophia Myotonica 1
- Dystrophia Myotonicas
- Dystrophica, Myotonia
- Dystrophicas, Myotonia
- Dystrophy, Steinert Myotonic
- Myotonia Atrophica
- Myotonia Atrophicas
- Myotonia Dystrophica
- Myotonia Dystrophicas
- Myotonica, Dystrophia
- Myotonicas, Dystrophia
- Myotonic Dystrophy 1
- Myotonic Dystrophy, Steinert
- Steinert Disease
- Steinert Myotonic Dystrophy
- Steinert's Disease
- Steinerts Disease
Note
- do not confuse with MUSCULAR DYSTROPHIES
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.
History note
- 2000(1966)
In other languages
-
Finnish
-
atrofinen myotonia
-
DM1
-
DM2
-
dystrophia musculorum myotonica
-
dystrophia myotonica
-
myotonia atrophica
-
myotoninen lihasdystrofia
-
PROMM
-
Steinert
-
Steinertin myotoninen dystrofia
-
Swedish
-
Dystrophia myotonica
-
Myotonia atrophica
-
PROMM (proximal myotonisk myopati)
-
Ricker syndrom
-
Steinerts sjukdom
URI
http://www.yso.fi/onto/mesh/D009223
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}