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Core Information
Disease Name
Myotonic Dystrophy
Standard Disease Name
myotonic dystrophy
MeSH Tree
No data
ICD-10
G71.11
Identifiers
DO ID
No data
MeSH ID
D009223
OMIM ID
No data
UMLS ID
C0027126
HPO ID
No data
Description and Extensions
Description
NCI2016_02D:An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.|MSH2017_2016_08_12: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.|CSP2006:autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy; cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur; congenital myotonic dystrophy is a severe form of this disorder.
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