Preferred Label : Myopathy, X-linked, with postural muscle atrophy;
Symbol : XMPMA;
CISMeF acronym : EDMD6; XMPMA;
Type : Phenotype, molecular basis known;
Included titles and symbols : Emery-dreifuss muscular dystrophy 6, X-linked; EDMD6;
Description : X-linked myopathy with postural muscle atrophy (XMPMA) is a progressive muscular dystrophy
with onset in adulthood. Affected individuals develop a proximal myopathy characterized
by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures
of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show
muscle hypertrophy in the early stages of the disorder (Windpassinger et al., 2008).
The clinical features of Emery-Dreifuss muscular dystrophy (see EDMD1; 310300) classically
include the triad of muscle weakness, joint contractures, and cardiac involvement,
thus showing clinical overlap with XMPMA (Gueneau et al., 2009).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the four-and-a-half LIM domains 1 gene (FHL1, 300163.0002);
Laboratory abnormalities : Increased serum creatine kinase;
Prefixed ID : #300696;
Origin ID : 300696;
UMLS CUI : C2678055;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
