Search on: MUSCULAR DYSTROPHY, EMERY-DREIFUSS 
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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: 		 

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