Muscular Dystrophy, Emery-Dreifuss [svalová dystrofie Emeryho-Dreifussova]

topical
18
Terms

Emeryho-Dreifussova muskulární dystrofie
Emeryho-Dreifussova muskulární dystrofie autozomálně recesivní
Emeryho-Dreifussova myopatie
Emeryho-Dreifussův syndrom
Emeryova-Dreifussova svalová dystrofie
Emeryova-Dreifussova svalová dystrofie autozomálně recesivní
MYH7-vázaná skapulo-peroneální myopatie
MYH7-vázaná skapuloperoneální myopatie
skapulo-peroneální svalová dystrofie
skapulohumerální svalová dystrofie
skapuloperoneální svalová dystrofie

 

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive
Emery-Dreifuss Syndrome
Emery-Dreifuss Type Muscular Dystrophy
Muscular Dystrophy, Emery-Dreifuss Type
Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive
Muscular Dystrophy, Scapuloperoneal
Myopathy, Hyaline Body, Autosomal Dominant
Myopathy, Myosin Storage
Myosin Storage Myopathy
Scapuloperoneal Muscular Dystrophy
Scapuloperoneal Myopathy, MYH7-Related

Persistent link   https://www.medvik.cz/link/D020389
Definition

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 (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.

DUI
D020389 MeSH Browser
CUI
M0328183
Previous indexing
Muscular Dystrophies (1966-1999)
History note
2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL use MUSCULAR DYSTROPHIES 2000-2004
Public note
2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL see MUSCULAR DYSTROPHIES 2000-2004

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 2
CO
complications 3
CN
congenital
DI
diagnosis 5
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 1
EH
ethnology
ET
etiology 1
GE
genetics 7
HI
history
IM
immunology
ME
metabolism 1
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 1
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 2
UR
urine
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 125
C05.651 Muscular Diseases 557
C05.651.534 Muscular Disorders, Atrophic 45
C05.651.534.500 Muscular Dystrophies 141
C05.651.534.500.074 Distal Myopathies 3
C05.651.534.500.149 Glycogen Storage Disease Type VII
C05.651.534.500.280 Muscular Dystrophies, Limb-Girdle 22
C05.651.534.500.300 Muscular Dystrophy, Duchenne 136
C05.651.534.500.350 Muscular Dystrophy, Emery-Dreifuss 18
C05.651.534.500.350.250 Autosomal Emery-Dreifuss Muscular Dystrophy
C05.651.534.500.350.500 X-Linked Emery-Dreifuss Muscular Dystrophy
C05.651.534.500.400 Muscular Dystrophy, Facioscapulohumeral 19
C05.651.534.500.450 Muscular Dystrophy, Oculopharyngeal 3
C05.651.534.500.500 Myotonic Dystrophy 96
C10 Nervous System Diseases 1 884
C10.668 Neuromuscular Diseases 333
C10.668.491 Muscular Diseases 557
C10.668.491.175 Muscular Disorders, Atrophic 45
C10.668.491.175.500 Muscular Dystrophies 141
C10.668.491.175.500.074 Distal Myopathies 3
C10.668.491.175.500.112 Glycogen Storage Disease Type VII
C10.668.491.175.500.149 Muscular Dystrophies, Limb-Girdle 22
C10.668.491.175.500.300 Muscular Dystrophy, Duchenne 136
C10.668.491.175.500.350 Muscular Dystrophy, Emery-Dreifuss 18
C10.668.491.175.500.350.250 Autosomal Emery-Dreifuss Muscular Dystrophy
C10.668.491.175.500.350.500 X-Linked Emery-Dreifuss Muscular Dystrophy
C10.668.491.175.500.400 Muscular Dystrophy, Facioscapulohumeral 19
C10.668.491.175.500.450 Muscular Dystrophy, Oculopharyngeal 3
C10.668.491.175.500.500 Myotonic Dystrophy 96
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.322.030 Aicardi Syndrome
C16.320.322.061 Androgen-Insensitivity Syndrome 56
C16.320.322.068 Barth Syndrome 6
C16.320.322.076 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.116 Ectodermal Dysplasia 1, Anhidrotic 3
C16.320.322.124 Fabry Disease 189
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.201 Glycogen Storage Disease Type IIb 11
C16.320.322.217 Glycogen Storage Disease Type VIII
C16.320.322.233 Granulomatous Disease, Chronic 54
C16.320.322.235 Hemophilia B 216
C16.320.322.237 Hyper-IgM Immunodeficiency Syndrome, Type 1 2
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.370 Isolated Noncompaction of the Ventricular Myocardium 11
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.562 Muscular Dystrophy, Duchenne 136
C16.320.322.625 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.322.625.500 X-Linked Emery-Dreifuss Muscular Dystrophy
C16.320.322.750 Oculocerebrorenal Syndrome 9
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease 20
C16.320.322.906 Pelizaeus-Merzbacher Disease 11
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.322.968 X-Linked Combined Immunodeficiency Diseases 4
C16.320.577 Muscular Dystrophies 141
C16.320.577.074 Distal Myopathies 3
C16.320.577.149 Glycogen Storage Disease Type VII
C16.320.577.280 Muscular Dystrophies, Limb-Girdle 22
C16.320.577.300 Muscular Dystrophy, Duchenne 136
C16.320.577.350 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.577.350.250 Autosomal Emery-Dreifuss Muscular Dystrophy
C16.320.577.350.500 X-Linked Emery-Dreifuss Muscular Dystrophy
C16.320.577.400 Muscular Dystrophy, Facioscapulohumeral 19
C16.320.577.450 Muscular Dystrophy, Oculopharyngeal 3
C16.320.577.500 Myotonic Dystrophy 96
C16.320.577.750 Walker-Warburg Syndrome 4

Muscular dystrophy, tardive Emery-Dreifuss type, with contractures Disease MeSH Browser

Scapuloperoneal Myopathy, X-Linked Dominant Disease MeSH Browser

Scapuloperoneal myopathy Disease MeSH Browser

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