Muscular Dystrophy, Emery-Dreifuss
"Muscular Dystrophy, Emery-Dreifuss" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D020389
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| MeSH Number(s) |
C05.651.534.500.350 C10.668.491.175.500.350 C16.320.322.625 C16.320.577.350
|
| Concept/Terms |
Muscular Dystrophy, Emery-Dreifuss- Muscular Dystrophy, Emery-Dreifuss
- Muscular Dystrophy, Emery Dreifuss
- Emery-Dreifuss Syndrome
- Emery Dreifuss Syndrome
- Muscular Dystrophy, Emery-Dreifuss Type
- Emery-Dreifuss Muscular Dystrophy
- Emery Dreifuss Muscular Dystrophy
- Emery-Dreifuss Type Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy- X-Linked Emery-Dreifuss Muscular Dystrophy
- X Linked Emery Dreifuss Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy, 1
- Emery Dreifuss Muscular Dystrophy, 1
- Emery-Dreifuss Muscular Dystrophy, X-Linked
- Emery Dreifuss Muscular Dystrophy, X Linked
- Scapuloperoneal Syndrome, X-Linked
- Scapuloperoneal Syndrome, X Linked
- X-Linked Scapuloperoneal Syndrome
- Muscular Dystrophy, Scapuloperoneal
- Scapuloperoneal Muscular Dystrophy
- Scapuloperoneal Myopathy, MYH7-Related
- MYH7-Related Scapuloperoneal Myopathy
- Myopathy, MYH7-Related Scapuloperoneal
- Scapuloperoneal Myopathy, MYH7 Related
- Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
- Muscular Dystrophy, Emery-Dreifuss, X-Linked
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy- Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
- Autosomal Dominant Emery Dreifuss Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
- Emery Dreifuss Muscular Dystrophy, Autosomal Dominant
- Scapuloilioperoneal Atrophy with Cardiopathy
- Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
- Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant
- Emery-Dreifuss Muscular Dystrophy 2
- Emery Dreifuss Muscular Dystrophy 2
- Hauptmann-Thannhauser Muscular Dystrophy
- Hauptmann Thannhauser Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy- Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
- Autosomal Recessive Emery Dreifuss Muscular Dystrophy
- Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive
- Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive
- Emery Dreifuss Muscular Dystrophy, Autosomal Recessive
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Below are MeSH descriptors whose meaning is more general than "Muscular Dystrophy, Emery-Dreifuss".
- Diseases [C]
- Musculoskeletal Diseases [C05]
- Muscular Diseases [C05.651]
- Muscular Disorders, Atrophic [C05.651.534]
- Muscular Dystrophies [C05.651.534.500]
- Muscular Dystrophy, Emery-Dreifuss [C05.651.534.500.350]
- Nervous System Diseases [C10]
- Neuromuscular Diseases [C10.668]
- Muscular Diseases [C10.668.491]
- Muscular Disorders, Atrophic [C10.668.491.175]
- Muscular Dystrophies [C10.668.491.175.500]
- Muscular Dystrophy, Emery-Dreifuss [C10.668.491.175.500.350]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Muscular Dystrophy, Emery-Dreifuss [C16.320.322.625]
- Muscular Dystrophies [C16.320.577]
- Muscular Dystrophy, Emery-Dreifuss [C16.320.577.350]
Below are MeSH descriptors whose meaning is more specific than "Muscular Dystrophy, Emery-Dreifuss".
This graph shows the total number of publications written about "Muscular Dystrophy, Emery-Dreifuss" by people in this website by year, and whether "Muscular Dystrophy, Emery-Dreifuss" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Muscular Dystrophy, Emery-Dreifuss" by people in Profiles.
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2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022 10; 19(10):e61-e120.
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
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Cardiac management in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012 Nov; 23(4):855-68.
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Uncoordinated transcription and compromised muscle function in the lmna-null mouse model of Emery- Emery-Dreyfuss muscular dystrophy. PLoS One. 2011 Feb 22; 6(2):e16651.
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Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 2006 Aug 15; 15(16):2479-89.