Search on: CONGENITAL MYOTONIC DYSTROPHIES 
Descriptors Found: 1
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Descriptor English:   Myotonic Dystrophy 
Descriptor Spanish:   Distrofia Miotónica 
Descriptor Portuguese:   Distrofia Miotônica 
Synonyms English:   Congenital Myotonic Dystrophy
Dystrophia Myotonica 1
Dystrophia Myotonica 2
Myotonia Atrophica
Myotonia Dystrophica
Myotonic Dystrophy 1
Myotonic Dystrophy 2
PROMM (Proximal Myotonic Myopathy)
Proximal Myotonic Myopathy
Ricker Syndrome
Steinert Myotonic Dystrophy
Steinert's Disease
Atrophica, Myotonia
Atrophicas, Myotonia
Congenital Myotonic Dystrophies
Disease, Steinert
Disease, Steinert's
Dystrophia Myotonica 2s
Dystrophia Myotonicas
Dystrophica, Myotonia
Dystrophicas, Myotonia
Dystrophies, Congenital Myotonic
Dystrophies, Myotonic
Dystrophy, Congenital Myotonic
Dystrophy, Myotonic
Dystrophy, Steinert Myotonic
Myopathies, Proximal Myotonic
Myopathy, Proximal Myotonic
Myotonia Atrophicas
Myotonia Dystrophicas
Myotonic Dystrophies
Myotonic Dystrophies, Congenital
Myotonic Dystrophy, Steinert
Myotonic Myopathies, Proximal
Myotonica, Dystrophia
Myotonicas, Dystrophia
PROMMs (Proximal Myotonic Myopathy)
Proximal Myotonic Myopathies
Steinerts Disease
Syndrome, Ricker
Dystrophia Myotonica
Steinert Disease
Myotonic Dystrophy, Congenital
Myotonic Myopathy, Proximal  
Tree Number:   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
Definition English:   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. 
Indexing Annotation English:   do not confuse with MUSCULAR DYSTROPHIES
See Related English:   DNA Repeat Expansion
Myotonin-Protein Kinase
Trinucleotide Repeat Expansion
 
History Note English:   2000(1966) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   9414 
Unique Identifier:   D009223 

Occurrence in VHL: 		 

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