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EMERY-DREIFUSS SYNDROME
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DeCS
Descriptor
English
:
Muscular Dystrophy, Emery-Dreifuss
Descriptor
Spanish
:
Distrofia Muscular de Emery-Dreifuss
Descriptor
Portuguese
:
Distrofia Muscular de Emery-Dreifuss
Synonyms
English
:
Muscular Dystrophy, Emery-Dreifuss, X-Linked
Emery-Dreifuss Syndrome
Tree Number:
C05.651.534.500.350
C10.668.491.175.500.350
C16.320.322.625
C16.320.577.350
Definition
English
:
A heterogenous group of inherited muscular dystrophy without the involvement of
nervous system
. The
disease
is characterized by
MUSCULAR ATROPHY
;
MUSCLE WEAKNESS
;
CONTRACTURE
of the elbows;
ACHILLES TENDON
; and posterior cervical
muscles
; with or without cardiac features. There are several
INHERITANCE PATTERNS
including X-linked (
X CHROMOSOME
), autosomal dominant, and autosomal recessive gene mutations.
History Note
English
:
2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL use MUSCULAR DYSTROPHIES 2000-2004
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
CN
congenital
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
VI
virology
Record Number:
34191
Unique Identifier:
D020389
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS