Myotonic Dystrophy [myotonická dystrofie]

topical
94
Terms

atrofická myotonie
dystrofická myotonie
kongenitální myotonická dystrofie
myotonia atrofica
myotonická dystrofie typ 2
myotonická svalová dystrofie
proximální myotonická myopatie
Steinertova nemoc

 

Congenital Myotonic Dystrophy
Dystrophia Myotonica
Dystrophia Myotonica 1
Dystrophia Myotonica 2
Myotonia Atrophica
Myotonia Dystrophica
Myotonic Dystrophy 1
Myotonic Dystrophy 2
Myotonic Dystrophy, Congenital
Myotonic Myopathy, Proximal
PROMM (Proximal Myotonic Myopathy)
Proximal Myotonic Myopathy
Ricker Syndrome
Steinert Disease
Steinert Myotonic Dystrophy
Steinert's Disease

Persistent link   https://www.medvik.cz/link/D009223
Definition

Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

Annotation
do not confuse with MUSCULAR DYSTROPHIES
DUI
D009223 MeSH Browser
CUI
M0014372
History note
2000(1966)
Public note
2000; see MYOTONIA ATROPHICA 1966-1999; for MYOTONIC DYSTROPHY see MYOTONIC ATROPHICA 1993-1999

Allowable subheadings

BL
blood 2
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 7
CO
complications 11
DI
diagnosis 43
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy 4
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 2
EH
ethnology
ET
etiology 10
GE
genetics 42
HI
history
IM
immunology 3
ME
metabolism 1
MI
microbiology
MO
mortality 1
NU
nursing
PS
parasitology
PA
pathology 5
PP
physiopathology 11
PC
prevention & control
PX
psychology 2
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 9
UR
urine
VE
veterinary 1
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 120
C05.651 Muscular Diseases 553
C05.651.534 Muscular Disorders, Atrophic 45
C05.651.534.500 Muscular Dystrophies 140
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 133
C05.651.534.500.350 Muscular Dystrophy, Emery-Dreifuss 18
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 94
C05.651.662 Myotonic Disorders 23
C05.651.662.500 Myotonia Congenita 17
C05.651.662.750 Myotonic Dystrophy 94
C10 Nervous System Diseases 1 878
C10.574 Neurodegenerative Diseases 641
C10.574.500 Heredodegenerative Disorders, Nervous System 45
C10.574.500.024 Alexander Disease 6
C10.574.500.050 Amyloid Neuropathies, Familial 20
C10.574.500.175 Bulbo-Spinal Atrophy, X-Linked 8
C10.574.500.300 Canavan Disease 9
C10.574.500.362 Cockayne Syndrome 4
C10.574.500.393 Dystonia Musculorum Deformans 3
C10.574.500.425 Gerstmann-Straussler-Scheinker Disease 22
C10.574.500.487 Hepatolenticular Degeneration 243
C10.574.500.490 Hereditary Central Nervous System Demyelinating Diseases 11
C10.574.500.493 Hereditary Sensory and Autonomic Neuropathies 26
C10.574.500.495 Hereditary Sensory and Motor Neuropathy 71
C10.574.500.497 Huntington Disease 322
C10.574.500.529 Lafora Disease 1
C10.574.500.545 Myotonia Congenita 17
C10.574.500.547 Myotonic Dystrophy 94
C10.574.500.549 Neurofibromatoses 28
C10.574.500.550 Neuronal Ceroid-Lipofuscinoses 29
C10.574.500.662 Optic Atrophies, Hereditary 5
C10.574.500.700 Pantothenate Kinase-Associated Neurodegeneration 17
C10.574.500.812 Spinal Muscular Atrophies of Childhood 59
C10.574.500.825 Spinocerebellar Degenerations 30
C10.574.500.850 Tourette Syndrome 86
C10.574.500.865 Tuberous Sclerosis 141
C10.574.500.875 Unverricht-Lundborg Syndrome 1
C10.668 Neuromuscular Diseases 330
C10.668.491 Muscular Diseases 553
C10.668.491.175 Muscular Disorders, Atrophic 45
C10.668.491.175.500 Muscular Dystrophies 140
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 133
C10.668.491.175.500.350 Muscular Dystrophy, Emery-Dreifuss 18
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 94
C10.668.491.606 Myotonic Disorders 23
C10.668.491.606.500 Myotonia Congenita 17
C10.668.491.606.750 Myotonic Dystrophy 94
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.400.024 Alexander Disease 6
C16.320.400.050 Amyloid Neuropathies, Familial 20
C16.320.400.100 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.400.150 Canavan Disease 9
C16.320.400.200 Cockayne Syndrome 4
C16.320.400.330 Dystonia Musculorum Deformans 3
C16.320.400.350 Gerstmann-Straussler-Scheinker Disease 22
C16.320.400.361 Hepatolenticular Degeneration 243
C16.320.400.367 Hereditary Central Nervous System Demyelinating Diseases 11
C16.320.400.375 Hereditary Sensory and Motor Neuropathy 71
C16.320.400.415 Hereditary Sensory and Autonomic Neuropathies 26
C16.320.400.430 Huntington Disease 322
C16.320.400.480 Lafora Disease 1
C16.320.400.525 X-Linked Intellectual Disability 17
C16.320.400.540 Myotonia Congenita 17
C16.320.400.542 Myotonic Dystrophy 94
C16.320.400.550 Neuroacanthocytosis 6
C16.320.400.560 Neurofibromatoses 28
C16.320.400.600 Neuronal Ceroid-Lipofuscinoses 29
C16.320.400.630 Optic Atrophies, Hereditary 5
C16.320.400.650 Pantothenate Kinase-Associated Neurodegeneration 17
C16.320.400.765 Spinal Muscular Atrophies of Childhood 59
C16.320.400.780 Spinocerebellar Degenerations 30
C16.320.400.820 Tourette Syndrome 86
C16.320.400.880 Tuberous Sclerosis 141
C16.320.400.940 Unverricht-Lundborg Syndrome 1
C16.320.577 Muscular Dystrophies 140
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 133
C16.320.577.350 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.577.400 Muscular Dystrophy, Facioscapulohumeral 19
C16.320.577.450 Muscular Dystrophy, Oculopharyngeal 3
C16.320.577.500 Myotonic Dystrophy 94
C16.320.577.750 Walker-Warburg Syndrome 4

Add