Neuroaxonal Dystrophies [neuroaxonální dystrofie]
- Terms
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adultní neuroaxonální dystrofie
dětská neuroaxonální dystrofie
dětská neuroaxonální dystrofie pozdní
infantilní neuroaxonální dystrofie
infantilní neuroaxonální dystrofie pozdní
juvenilní neuroaxonální dystrofie
neuroaxonální dystrofie dospělých
neuroaxonální dystrofie mladistvých
Seitelbergerova nemoc
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Adult Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy
NBIA, PLA2G6-Related
NBIA2A
Neuroaxonal Dystrophy, Adult
Neuroaxonal Dystrophy, Infantile
Neuroaxonal Dystrophy, Juvenile
Neuroaxonal Dystrophy, Late Infantile
Neurodegeneration With Brain Iron Accumulation 2A
Neurodegeneration, PLA2G6-Associated
Seitelberger Disease
Seitelberger's Disease
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
- DUI
- D019150 MeSH Browser
- CUI
- M0028551
- History note
- 1997
- Public note
- 1997
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- CN
- congenital
- DI
- diagnosis 1
- DG
- diagnostic imaging 2
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology 1
- EH
- ethnology
- ET
- etiology 4
- GE
- genetics 3
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 2
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology
Karak Syndrome Disease MeSH Browser
NBIA2B Disease MeSH Browser
Neuroaxonal dystrophy renal tubular acidosis Disease MeSH Browser
Neurodegeneration Due To Cerebral Folate Transport Deficiency Disease MeSH Browser
Neurodegeneration with brain iron accumulation (NBIA) Disease MeSH Browser
Neuroferritinopathy Disease MeSH Browser
Osteopetrosis and infantile neuroaxonal dystrophy Disease MeSH Browser
Schindler Disease, Type I Disease MeSH Browser