disease 1,698 words KG: ent-dise-1c3a6388
Contents

gm1-gangliosidosis

Disease Info
Typical OnsetTypically adolescence or early adulthood (10–30 years)
PrognosisDeath typically occurs between ages 1 and 4 years, with a mean survival of 18.9 months for early infantile onset [@passage2023]
Type I (infantile)<2% residual β-gal activity
Type II (late infantile/juvenile)2–10% residual activity
Type III (adult/chronic)5–15% residual activity [@gangliosidosis2024]
Initial signsHypotonia, poor feeding, failure to thrive, exaggerated startle response
Progressive featuresDevelopmental arrest and regression, seizures, progressive spasticity, cortical blindness
Characteristic findingsCherry-red macular spot (50% of cases), coarse facial features, frontal bossing, gingival hypertrophy, hepatosplenomegaly, skeletal dysostosis multiplex
Primary featuresProgressive dystonia (often generalized), gait abnormalities, dysarthria
CognitiveMild to moderate cognitive decline, usually later in disease course
Other featuresCorneal clouding in some patients, mild vertebral anomalies
ProgressionSlowest of all subtypes, with survival into the 3rd through 5th decade [^16]
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (14)

TREM2-Dependent Astrocyte-Microglia Cross-talk in Neurodegen
Score: 0.64
TREM2-Mediated Astrocyte-Microglia Cross-Talk in Neurodegene
Score: 0.61
TREM2-mediated microglial tau clearance enhancement
Score: 0.49
TREM2 Conformational Stabilizers for Synaptic Discrimination
Score: 0.41
TREM2-Dependent Microglial Senescence Transition
Score: 0.69

Related Analyses (7)

Lipid metabolism dysregulation and membrane integrity in Alz
neurodegeneration · completed
Mechanistic role of APOE in neurodegeneration
neurodegeneration · archived
Synaptic pruning by microglia in early AD
neurodegeneration · archived
Tau propagation mechanisms and therapeutic interception poin
neurodegeneration · archived
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived

Related Experiments (16)

Animal Model Comparison for Neurodegenerative Disease Therap
clinical · proposed · Score: 0.40
Autophagy Enhancement Drug Screening for Neurodegeneration
clinical · proposed · Score: 0.40
Endocannabinoid System Dysfunction Validation in Parkinson's
clinical · proposed · Score: 0.40
Glymphatic-Circadian Axis Enhancement Therapy for Parkinson'
clinical · proposed · Score: 0.40
Gut Microbiome-Derived Metabolites in Alpha-Synuclein Propag
clinical · proposed · Score: 0.40