Pantothenate Kinase-Associated Neurodegeneration [Hallervordenův-Spatzův syndrom]

topical
17
Terms

Hallervorden-Spatzova nemoc
Hallervordenova-Spatzova choroba
neuroaxonální degenerace s nástupem v mládí
neurodegenerace spojená s pantothenátkinasou

 

Hallervorden-Spatz Disease
Hallervorden-Spatz Syndrome
Neuroaxonal Dystrophy, Juvenile-Onset
Neurodegeneration With Brain Iron Accumulation 1
Neurodegeneration with Brain Iron Accumulation Type 1
Pigmentary Pallidal Atrophy
Pigmentary Pallidal Degeneration
PKAN Neuroaxonal Dystrophy, Juvenile-Onset

Persistent link   https://www.medvik.cz/link/D006211
Definition

A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)

DUI
D006211 MeSH Browser
CUI
M0009761
History note
2008 (1965)
Public note
2008; see HALLERVORDEN-SPATZ SYNDROME 1991-2007, see BASAL GANGLIA DISEASES 1979-1990, see BRAIN DISEASES 1975-1978

Allowable subheadings

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

C Diseases
C10 Nervous System Diseases 1 884
C10.228 Central Nervous System Diseases 810
C10.228.140 Brain Diseases 1 183
C10.228.140.079 Basal Ganglia Diseases 103
C10.228.140.079.127 Basal Ganglia Cerebrovascular Disease 8
C10.228.140.079.294 Chorea Gravidarum 2
C10.228.140.079.357 Dystonia Musculorum Deformans 3
C10.228.140.079.493 Hepatolenticular Degeneration 243
C10.228.140.079.545 Huntington Disease 326
C10.228.140.079.590 Meige Syndrome 9
C10.228.140.079.612 Multiple System Atrophy 58
C10.228.140.079.737 Neuroleptic Malignant Syndrome 46
C10.228.140.079.800 Pantothenate Kinase-Associated Neurodegeneration 17
C10.228.140.079.862 Parkinsonian Disorders 304
C10.228.140.079.882 Supranuclear Palsy, Progressive 50
C10.228.140.079.898 Tourette Syndrome 86
C10.228.140.744 Neuroaxonal Dystrophies 10
C10.228.140.744.320 Pantothenate Kinase-Associated Neurodegeneration 17
C10.228.662 Movement Disorders 918
C10.228.662.037 Akathisia, Drug-Induced 29
C10.228.662.075 Angelman Syndrome 35
C10.228.662.262 Dyskinesias 89
C10.228.662.300 Dystonic Disorders 85
C10.228.662.350 Essential Tremor 57
C10.228.662.400 Hepatolenticular Degeneration 243
C10.228.662.550 Multiple System Atrophy 58
C10.228.662.575 Pantothenate Kinase-Associated Neurodegeneration 17
C10.228.662.600 Parkinsonian Disorders 304
C10.228.662.700 Supranuclear Palsy, Progressive 50
C10.228.662.825 Tic Disorders 25
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
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
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

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Disease MeSH Browser

Add