Disease Information for Generalized gangliosidosis/GM2

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Clinical Manifestations
Signs & Symptoms
Large tongue/macroglossia
Proximal muscle weakness
Babinski's upgoing toes/bilateral
Dystonia
Nystagmus
Snoring
Vision Loss
True Vertigo Sign Confirmed
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Blindness
Blindness in Children
Developmental neurologic degeneration/child
Generalized Gangliosidosis, type 2
Strabismus
Strabismus, convergent
Visual acuity loss
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Hereditofamilial (category)
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sphingolipid metabolic disorder (ex)
PROCESS/Storage disorder (ex)
Synonyms
Synonym
Deficiency of beta N acetylhexosaminidase isoenzymes, G(M2) Gangliosidoses, Gangliosidose GM2, GANGLIOSIDOSES GM 02, Gangliosidoses GM2, Gangliosidosis GM2, GM GANGLIOSIDOSES 02, GM2 Gangliosidose, GM2 Gangliosidoses, GM2 gangliosidosis, GM2 gangliosidosis (disorder), Synonym/Gangliosidosis/type 2 GM2, Synonym/Juvenile GM1 disease
Definition
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External Links Related to Generalized gangliosidosis/GM2
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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