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Bulbo-Spinal Atrophy, X-Linked [bulbospinální atrofie vázaná na chromozom X]

topical

8

Terms: bulbospinální atrofie vázaná na chromozóm X
bulbospinální muskulární atrofie
Kennedyho nemoc
Kennedyho syndrom
spinální a bulbární svalová atrofie
X-vázaná bulbospinální atrofie

: Atrophy, Muscular, Spinobulbar
Bulbospinal Muscular Atrophy, X-linked
Kennedy Disease
Kennedy Spinal and Bulbar Muscular Atrophy
Kennedy Syndrome
Kennedy's Disease
Muscular Atrophy, Spinobulbar
Spinal and Bulbar Muscular Atrophy
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Spinobulbar Muscular Atrophy
X-Linked Bulbo-Spinal Atrophy
X-linked Bulbospinal Muscular Atrophy
X-Linked Spinal and Bulbar Muscular Atrophy

Persistent link https://www.medvik.cz/link/D055534

Definition

An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.

DUI: D055534 MeSH Browser
CUI: M0518289
History note: 2009(2000); use MUSCULAR ATROPHY, SPINAL 2000-2008
Public note: 2009; see MUSCULAR ATROPHY, SPINAL 2000-2008

Allowable subheadings

... Occurrences in Medvik records

C Diseases

C10 Nervous System Diseases 1 884

C10.228 Central Nervous System Diseases 810

C10.228.854 Spinal Cord Diseases 312

C10.228.854.468 Muscular Atrophy, Spinal 131

C10.228.854.468.399 Bulbo-Spinal Atrophy, X-Linked 8

C10.228.854.468.800 Spinal Muscular Atrophies of Childhood 59

C10.574 Neurodegenerative Diseases 649

C10.574.500 Heredodegenerative Disorders, Nervous System 46

C10.574.500.024 Alexander Disease 6

C10.574.500.050 Amyloid Neuropathies, Familial 21

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 12

C10.574.500.493 Hereditary Sensory and Autonomic Neuropathies 26

C10.574.500.495 Hereditary Sensory and Motor Neuropathy 72

C10.574.500.497 Huntington Disease 326

C10.574.500.529 Lafora Disease 1

C10.574.500.545 Myotonia Congenita 18

C10.574.500.547 Myotonic Dystrophy 96

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 144

C10.574.500.875 Unverricht-Lundborg Syndrome 1

C10.574.562 Motor Neuron Disease 63

C10.574.562.500 Muscular Atrophy, Spinal 131

C10.574.562.500.374 Bulbo-Spinal Atrophy, X-Linked 8

C10.574.562.500.750 Spinal Muscular Atrophies of Childhood 59

C10.668 Neuromuscular Diseases 333

C10.668.467 Motor Neuron Disease 63

C10.668.467.500 Muscular Atrophy, Spinal 131

C10.668.467.500.186 Bulbo-Spinal Atrophy, X-Linked 8

C10.668.467.500.750 Spinal Muscular Atrophies of Childhood 59

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

C16.320.322.750 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

C16.320.400 Heredodegenerative Disorders, Nervous System 46

C16.320.400.024 Alexander Disease 6

C16.320.400.050 Amyloid Neuropathies, Familial 21

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 12

C16.320.400.375 Hereditary Sensory and Motor Neuropathy 72

C16.320.400.415 Hereditary Sensory and Autonomic Neuropathies 26

C16.320.400.430 Huntington Disease 326

C16.320.400.480 Lafora Disease 1

C16.320.400.525 X-Linked Intellectual Disability 18

C16.320.400.540 Myotonia Congenita 18

C16.320.400.542 Myotonic Dystrophy 96

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 144

C16.320.400.940 Unverricht-Lundborg Syndrome 1

Bulbospinal neuronopathy, X-linked recessive Disease MeSH Browser