Page last updated: 2024-09-27

Benign Scapuloperoneal Muscular Dystrophy with Early Contractures

Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.

Synonyms(14)

Synonym
Emery-Dreifuss Muscular Dystrophy 1
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
EDMD1
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
Muscular Dystrophy, Emery-Dreifuss, X-Linked
Scapuloperoneal Syndrome, X-Linked
Emery-Dreifuss Muscular Dystrophy, 1
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
Emerinopathy
Emery-Dreifuss Muscular Dystrophy, X-Linked
Emery-Dreifuss Muscular Dystrophy 6
XMPMA
Myopathy, X-Linked, With Postural Muscle Atrophy
X-Linked Emery-Dreifuss Muscular Dystrophy

Research Excerpts

Overview

ExcerptReference
"Cardiac emerinopathy is a novel nonsyndromic X-linked progressive atrial standstill associated with LVNC and increased risk of thromboembolism."( Aiba, T; Barc, J; Chishaki, A; Hata, Y; Hirono, K; Horie, M; Ichida, F; Ishikawa, T; Kimoto, H; Kowase, S; Makita, N; Mishima, H; Mukai, Y; Nogami, A; Ohkubo, K; Ohno, S; Sato, T; Schott, JJ; Shimizu, W; Takahashi, MP; Terada, S; Watanabe, H; Yoshiura, KI; Yui, Y, 2020)

Research

Studies (2)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's0 (0.00)28.8240
2020's2 (100.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
emerin0medium20