Disease Information for Adult amaurotic familial idiocy

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Clinical Manifestations
Signs & Symptoms
Parotid swelling
Lymphadenopathy
Regressing neuromotor/skills child/signs
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Middle Eastern Population
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Population/Male
Diagnostic Test Results
Ultrasound
Echo/Pulmonary artery hypertension
Associated Diseases & Rule outs
Associated Disease & Complications
Pulmonary hypertension
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Adult variant disease milder
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Ganglioside accumulation brain
Pathophysiology/Adult Niemann-Pick/sphingomyelin
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
PROCESS/Variant expressions/Subsets (ex)
PROCESS/Cerebral lipidoses (ex)
Synonyms
Synonym
Adult Neuronal Ceroid Lipfuscinosis, Adult neuronal ceroid lipofusc, Adult neuronal ceroid lipofuscinosis, Adult neuronal ceroid lipofuscinosis (disorder), Adult type amaurotic idiocy, Amaurotic idiocy adult type, Amaurotic idiocy late familial, CEROID LIPOFUSCINOSIS NEURONAL 4 AUTOSOMAL RECESSIVE, CLN4, Disease Kufs', Kufs, KUFS DIS, Kufs Disease, Kuf's disease, Kufs' disease, KUFS DISEASE AUTOSOMAL RECESSIVE, Kufs neuronal ceroid lipofusc, Kufs type neuronal ceroid lipofuscinosis, Late familial amaurotic idiocy, Neuronal Ceroid Lipfuscinosis Adult, Neuronal lipofuscinosis adult, Synonym/Adult sphingomyelin lipoidosis, Synonym/Sphingomyelin lipidosis
Treatment
Other Treatments
TX/Genetic counselling
Definition
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External Links Related to Adult amaurotic familial idiocy
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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