Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Myotonic Dystrophy MeSH Descriptor Data 2025


MeSH Heading
Myotonic Dystrophy
Tree Number(s)
C05.651.534.500.500
C05.651.662.750
C10.574.500.547
C10.668.491.175.500.500
C10.668.491.606.750
C16.320.400.542
C16.320.577.500
Unique ID
D009223
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D009223
Annotation
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.
Entry Term(s)
Congenital Myotonic Dystrophy
Dystrophia Myotonica
Dystrophia Myotonica 1
Dystrophia Myotonica 2
Myotonia Atrophica
Myotonia Dystrophica
Myotonic Dystrophy 1
Myotonic Dystrophy 2
Myotonic Dystrophy, Congenital
Myotonic Myopathy, Proximal
PROMM (Proximal Myotonic Myopathy)
Proximal Myotonic Myopathy
Ricker Syndrome
Steinert Disease
Steinert Myotonic Dystrophy
Steinert's Disease
NLM Classification #
WE 559
See Also
DNA Repeat Expansion
Myotonin-Protein Kinase
Trinucleotide Repeat Expansion
Public MeSH Note
2000; see MYOTONIA ATROPHICA 1966-1999; for MYOTONIC DYSTROPHY see MYOTONIC ATROPHICA 1993-1999
History Note
2000(1966)
Date Established
1966/01/01
Date of Entry
1999/11/08
Revision Date
2014/06/20
Myotonic Dystrophy Preferred
Myotonic Dystrophy, Congenital Related
Myotonic Dystrophy 2 Related
page delivered in 0.151s