- Concept UI
- M0328183
- Scope Note
- 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 (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.
- Terms
-
Muscular Dystrophy, Emery-Dreifuss
Preferred Term
Term UI
T358183
Date10/12/1999
LexicalTag
EPO
ThesaurusID
-
Emery-Dreifuss Muscular Dystrophy
Term UI
T841327
Date04/18/2013
LexicalTag
EPO
ThesaurusID
-
Emery-Dreifuss Syndrome
Term UI
T369194
Date10/12/1999
LexicalTag
EPO
ThesaurusID
-
Emery-Dreifuss Type Muscular Dystrophy
Term UI
T369195
Date10/12/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)
-
Muscular Dystrophy, Emery-Dreifuss Type
Term UI
T369196
Date10/12/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)