エメリ・ドレフュス型筋ジストロフィー
WordNet
- any degenerative disorder resulting from inadequate or faulty nutrition
- of or relating to or consisting of muscle; "muscular contraction"
- having or suggesting great physical power or force; "the muscular and passionate Fifth Symphony"
- a hard grey-black mineral consisting of corundum and either hematite or magnetite; used as an abrasive (especially as a coating on paper)
PrepTutorEJDIC
- 栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)
- 『助肉の』,筋肉でできた / 筋肉による / 筋肉の発達した
- 金剛砂,エメリー(研磨剤に用いる粒状鉱石)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/15 23:04:32」(JST)
[Wiki en表示]
For other uses of "EDMD", see Everybody Draw Mohammed Day.
| Emery–Dreifuss muscular dystrophy |
| Classification and external resources |
| ICD-10 |
G71.0 |
| ICD-9-CM |
359.0-359.1 |
| OMIM |
181350 604929 310300 |
| DiseasesDB |
31705 33543
31704 |
| MeSH |
D020389 |
| GeneReviews |
- Emery-Dreifuss Muscular Dystrophy
- SYNE1-Related Autosomal Recessive Cerebellar Ataxia
|
Emery–Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle.
It is named after Alan Eglin H. Emery (1928–) and Fritz E. Dreifuss.[1][2][3]
Contents
- 1 Presentation
- 2 Classification
- 3 Genetics
- 4 See also
- 5 References
- 6 External links
Presentation
Among the earliest features of this disorder are joint deformities called contractures,[4] which restrict the movement of certain joints. Contractures become noticeable in early childhood to teenage years and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips. A power chair or scooter or wheelchair may be needed by adulthood.
Almost all people with Emery–Dreifuss muscular dystrophy have heart problems by adulthood. In many cases, these heart problems stem from abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to an unusually slow heartbeat (bradycardia), fainting (syncope), and an increased risk of stroke and sudden death.
Classification
The types of Emery–Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive.
- Although the three types have similar signs and symptoms, researchers believe that the features of autosomal dominant Emery–Dreifuss muscular dystrophy are more variable than the other types. A small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.
- X-linked Emery–Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people.
- The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown.
Genetics
Mutations in the EMD and LMNA genes cause Emery–Dreifuss muscular dystrophy.[5] The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.
| Type |
OMIM |
Gene |
Description |
| EDMD1 |
310300 |
EMD |
Most cases of Emery–Dreifuss muscular dystrophy are caused by mutations in the EMD gene. This gene provides instructions for making a protein called emerin, a transmembrane protein of the inner nuclear membrane which appears to be essential for the normal function of skeletal and cardiac muscle. Most EMD mutations prevent the production of any functional emerin. It remains unclear how a lack of this protein results in the signs and symptoms of Emery–Dreifuss muscular dystrophy. |
| EDMD2, EDMD3 |
181350 |
LMNA |
Less commonly, Emery–Dreifuss muscular dystrophy results from mutations in the LMNA gene. This gene provides instructions for making two very similar proteins, lamin A and lamin C. Most of the LMNA mutations that cause this condition result in the production of an altered version of these proteins. |
| EDMD4 |
612998 |
SYNE1 |
|
| EDMD5 |
612999 |
SYNE2 |
|
| EDMD6 |
300696 |
FHL1 |
|
See also
- Laminopathies
- Noncompaction Cardiomyopathy
References
- ^ Emery-Dreifuss syndrome at Who Named It?
- ^ Emery AE, Dreifuss FE (1966). "Unusual type of benign x-linked muscular dystrophy". J. Neurol. Neurosurg. Psychiatr. 29 (4): 338–42. doi:10.1136/jnnp.29.4.338. PMC 1064196. PMID 5969090.
- ^ Emery AE (1989). "Emery-Dreifuss syndrome". J. Med. Genet. 26 (10): 637–41. doi:10.1136/jmg.26.10.637. PMC 1015715. PMID 2685312.
- ^ Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ (August 2007). "Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy". Hum. Mol. Genet. 16 (15): 1884–95. doi:10.1093/hmg/ddm137. PMID 17567779.
- ^ Brown SC, Piercy RJ, Muntoni F, Sewry CA (December 2008). "Investigating the pathology of Emery-Dreifuss muscular dystrophy". Biochem. Soc. Trans. 36 (Pt 6): 1335–8. doi:10.1042/BST0361335. PMID 19021551.
External links
- Emery–Dreifuss muscular dystrophy at NLM Genetics Home Reference
- GeneReviews/NCBI/NIH/UW entry on Emery–Dreifuss muscular dystrophy
- GeneReviews/NCBI/NIH/UW entry on SYNE1-Related Autosomal Recessive Cerebellar Ataxia
|
Muscular dystrophy
|
|
| Types |
- Congenital
- dystrophin
- Distal
- Emery-Dreifuss
- Facioscapulohumeral
- Limb-girdle muscular dystrophy
- Myotonic
- Oculopharyngeal
|
|
| National/International Organizations |
- Muscular Dystrophy Association (USA)
- Muscular Dystrophy Canada
- Myotonic Dystrophy Foundation
|
|
| National/International Events |
- MDA Muscle Walk (USA)
- MDA Show of Strength (USA)
- Décrypthon (France)
|
|
| Clinical trials |
|
|
|
Index of muscle
|
|
| Description |
- Anatomy
- head
- neck
- arms
- chest and back
- diaphragm
- abdomen
- genital area
- legs
- Muscle tissue
- Physiology
|
|
| Disease |
- Myopathy
- Soft tissue
- Connective tissue
- Congenital
- abdomen
- muscular dystrophy
- Neoplasms and cancer
- Injury
- Symptoms and signs
|
|
| Treatment |
- Procedures
- Drugs
- anti-inflammatory
- muscle relaxants
|
|
|
|
Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
|
|
Neuromuscular-
junction disease |
- autoimmune
- Myasthenia gravis
- Lambert–Eaton myasthenic syndrome
|
|
Myopathy/
congenital myopathy |
Muscular dystrophy
(DAPC) |
| AD |
- Limb-girdle muscular dystrophy 1
- Oculopharyngeal
- Facioscapulohumeral
- Myotonic
- Distal (most)
|
|
| AR |
- Limb-girdle muscular dystrophy 2
- Congenital
- Fukuyama
- Ullrich
- Walker–Warburg
|
|
| XR |
- dystrophin
- Emery–Dreifuss
|
|
|
| Other structural |
- collagen disease
- PTP disease
- adaptor protein disease
- BIN1-linked centronuclear myopathy
- cytoskeleton disease
- Nemaline myopathy
- Zaspopathy
|
|
| Channelopathy |
| Myotonia |
- Myotonia congenita
- Thomsen disease
- Neuromyotonia/Isaacs syndrome
- Paramyotonia congenita
|
|
| Periodic paralysis |
|
|
| Other |
|
|
|
| Mitochondrial myopathy |
|
|
| Other |
|
|
|
|
Index of muscle
|
|
| Description |
- Anatomy
- head
- neck
- arms
- chest and back
- diaphragm
- abdomen
- genital area
- legs
- Muscle tissue
- Physiology
|
|
| Disease |
- Myopathy
- Soft tissue
- Connective tissue
- Congenital
- abdomen
- muscular dystrophy
- Neoplasms and cancer
- Injury
- Symptoms and signs
|
|
| Treatment |
- Procedures
- Drugs
- anti-inflammatory
- muscle relaxants
|
|
|
|
Sex linkage: X-linked disorders
|
|
|
X-linked recessive
|
|
| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
|
|
| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
|
|
| Endocrine |
- Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
|
|
| Metabolic |
- Amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- Dyslipidemia: Adrenoleukodystrophy
- Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- Lipid storage disorder: Fabry's disease
- Mucopolysaccharidosis: Hunter syndrome
- Purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- Mineral: Menkes disease/Occipital horn syndrome
|
|
| Nervous system |
- X-linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- Eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- Other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
|
|
| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
|
|
| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
|
|
| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
|
|
| Bone/tooth |
- AMELX Amelogenesis imperfecta
|
|
| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith–Fineman–Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
|
|
|
|
X-linked dominant
|
|
- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
- Craniofrontonasal dysplasia
|
|
|
|
Cytoskeletal defects
|
|
| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
|
|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
|
| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
|
|
|
| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
|
|
| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
|
| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
|
|
| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
|
|
| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
|
|
| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
|
|
| Other |
- Tauopathy
- Cavernous venous malformation
|
|
|
| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
|
|
| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
|
|
| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
|
|
|
See also: cytoskeletal proteins
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
|
|
UpToDate Contents
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English Journal
- Hypoplasia of the Aorta in a Patient Diagnosed with LMNA Gene Mutation.
- Coutance G, Labombarda F, Cauderlier E, Belin A, Richard P, Bonne G, Chapon F.SourceDepartment of Cardiology, University Teaching Hospital of Caen, Caen, France.
- Congenital heart disease.Congenit Heart Dis.2012 Aug 7. doi: 10.1111/j.1747-0803.2012.00695.x. [Epub ahead of print]
- Hypoplasia of the aorta is a rare entity comprising tubular hypotrophy of a large segment of the thoracic and the abdominal aorta. We report for the first time the case of a 26-year-old man with Emery-Dreifuss muscular dystrophy presenting severe and diffuse hypoplasia of the aorta.© 2012 Wiley Per
- PMID 22883396
- Inner Nuclear Envelope Proteins SUN1 and SUN2 Play a Prominent Role in the DNA Damage Response.
- Lei K, Zhu X, Xu R, Shao C, Xu T, Zhuang Y, Han M.SourceInstitute of Developmental Biology and Molecular Medicine, School of Life Science, Fudan University, Shanghai 200433, China.
- Current biology : CB.Curr Biol.2012 Aug 1. [Epub ahead of print]
- The DNA damage response (DDR) and DNA repair are critical for maintaining genomic stability and evading many human diseases [1, 2]. Recent findings indicate that accumulation of SUN1, a nuclear envelope (NE) protein, is a significant pathogenic event in Emery-Dreifuss muscular dystrophy and Hutchin
- PMID 22863315
Japanese Journal
- Ventricular Arrhythmia in X-linked Emery-Dreifuss Muscular Dystrophy: A Lesson from an Autopsy Case
- Ishikawa Kiyotake,Mimuro Maya,Tanaka Toshikazu
- Internal Medicine 50(5), 459-462, 2011
- … Emery-Dreifuss muscular dystrophy (EDMD) is a distinctive form of muscular dystrophy which is often associated with cardiac abnormalities. …
- NAID 130000649860
- Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy
- Kajimoto Hidemi,Ishigaki Keiko,Okumura Kenichi,Tomimatsu Hirofumi,Nakazawa Makoto,Saito Kayoko,Osawa Makiko,Nakanishi Toshio
- Circulation journal : official journal of the Japanese Circulation Society 70(8), 991-994, 2006-07-20
- … Background In muscular dystrophy, cardiac function deteriorates with time and heart failure is one of the major causes of death. … Although the combination of angiotensin-converting enzyme inhibitors (ACEI) and β-blockers improves cardiac function in adults, little is known about the efficacy of those drugs in patients with muscular dystrophy. …
- NAID 110004775698
Related Links
- Information on Emery-Dreifuss syndrome, including diagnosis, research and treatments ... Emery-Dreifuss muscular dystrophy Emery-Dreifuss is a muscle wasting condition. It usually begins in childhood or adolescence. The ...
- Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it is inherited in an X-linked recessive pattern. A condition is ...
Related Pictures
★リンクテーブル★
[★]
- 英
- Emery-Dreifuss muscular dystrophy
- 同
- エメリ・ドレフュス症候群 Emery-Dreifuss syndrome、エメリ・ドレフュシュ型筋ジストロフィー、Emery-Dreifuss型筋ジストロフィー、肩甲腓骨型筋ジストロフィー
- 関
- 脊椎硬直症候群
[show details]
[★]
- 英
- scapuloperoneal muscular dystrophy scapuloperoneal dystrophy
- 関
- エメリ・ドレフュシュ型筋ジストロフィー エメリ・ドレフュス型筋ジストロフィー Emery-Dreifuss muscular dystrophy
[★]
- (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー
- 栄養障害。細胞や組織の物質代謝障害によって変性・萎縮などの起こること。
[★]
- 関
- muscle、muscularis、musculus、myo
[★]
[★]
筋ジストロフィー MD