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

C Diseases
C10.228.140 Brain Diseases 1 177
C10.228.140.079 Basal Ganglia Diseases 100
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 322
C10.228.140.079.590 Meige Syndrome 9
C10.228.140.079.612 Multiple System Atrophy 56
C10.228.140.079.737 Neuroleptic Malignant Syndrome 46
C10.228.140.079.862 Parkinsonian Disorders 301
C10.228.140.079.882 Supranuclear Palsy, Progressive 50
C10.228.140.079.898 Tourette Syndrome 86
C10.228.140.744 Neuroaxonal Dystrophies 9
C10.228.662 Movement Disorders 914
C10.228.662.037 Akathisia, Drug-Induced 29
C10.228.662.075 Angelman Syndrome 35
C10.228.662.262 Dyskinesias 88
C10.228.662.300 Dystonic Disorders 80
C10.228.662.350 Essential Tremor 55
C10.228.662.550 Multiple System Atrophy 56
C10.228.662.600 Parkinsonian Disorders 301
C10.228.662.825 Tic Disorders 25
C10.574.500.024 Alexander Disease 6
C10.574.500.300 Canavan Disease 9
C10.574.500.362 Cockayne Syndrome 4
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
C10.574.500.850 Tourette Syndrome 86
C10.574.500.865 Tuberous Sclerosis 141
C16.320.400.024 Alexander Disease 6
C16.320.400.150 Canavan Disease 9
C16.320.400.200 Cockayne Syndrome 4
C16.320.400.430 Huntington Disease 322
C16.320.400.480 Lafora Disease 1
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
C16.320.400.820 Tourette Syndrome 86
C16.320.400.880 Tuberous Sclerosis 141