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.
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
- Emery-Dreifuss Muscular Dystrophy
- Muscular Dystrophy, Emery Dreifuss
- Emery-Dreifuss Type Muscular Dystrophy
- Muscular Dystrophy, Emery-Dreifuss Type
- Emery-Dreifuss Syndrome
- Emery Dreifuss Syndrome
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
X-Linked Emery-Dreifuss Muscular Dystrophy- X-Linked Emery-Dreifuss Muscular Dystrophy
- X Linked Emery Dreifuss Muscular Dystrophy
- Scapuloperoneal Syndrome, X-Linked
- Scapuloperoneal Syndrome, X Linked
- X-Linked Scapuloperoneal Syndrome
- Muscular Dystrophy, Scapuloperoneal
- Scapuloperoneal Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy, X-Linked
- Emery Dreifuss Muscular Dystrophy, X Linked
- Muscular Dystrophy, Emery-Dreifuss, X-Linked
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy- Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
- Autosomal Dominant Emery Dreifuss Muscular Dystrophy
- Scapuloilioperoneal Atrophy with Cardiopathy
- Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant
- Emery-Dreifuss Muscular Dystrophy 2
- Emery Dreifuss Muscular Dystrophy 2
- Hauptmann-Thannhauser Muscular Dystrophy
- Hauptmann Thannhauser Muscular Dystrophy
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 Harvard Catalyst Profiles by year, and whether "Muscular Dystrophy, Emery-Dreifuss" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2001 | 0 | 1 | 1 |
| 2005 | 0 | 1 | 1 |
| 2013 | 0 | 1 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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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Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5. J Neuroophthalmol. 2021 09 01; 41(3):e333-e334.
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Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. Proc Natl Acad Sci U S A. 2018 04 17; 115(16):4206-4211.
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Clinical Reasoning: Cardioembolic stroke in a 23-year-old man with elbow contracture. Neurology. 2018 01 09; 90(2):e172-e176.
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Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. Mol Biol Cell. 2017 Aug 15; 28(17):2303-2317.
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Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient. Sci Rep. 2017 03 14; 7:44312.
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Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol. 2015 Jun; 72(6):689-98.
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Clinical Reasoning: A 38-year-old woman with childhood-onset weakness. Neurology. 2014 Aug 12; 83(7):e81-4.
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Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. Hum Mol Genet. 2014 Jan 01; 23(1):209-25.
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Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 2012 Apr 17; 78(16):1258-63.