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MYOTONIC MYOPATHY, PROXIMAL
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DeCS
Descriptor
English
:
Myotonic Dystrophy
Descriptor
Spanish
:
Distrofia Miotónica
Descriptor
Portuguese
:
Distrofia Miotônica
Synonyms
English
:
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
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
9414
Unique Identifier:
D009223
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS