Gm2 Gangliosidosis C0268274
A lysosomal storage disorder affecting nervous system cells, causing progressive neurological damage in infants and children. Care focuses on supporting affected individuals.
Key facts at a glance
- ICD-10
- E75.00, E75.09
- ICD-11
- 5A00.0
- Body system
- neurologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Seizures
Cherry-red spot
(neurologic)Developmental regression
(neurologic)Macrocephaly
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Image-guided procedure with follow-up care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Neuroprotective support
Pharmacological approaches to support neuronal function and manage symptoms including seizures, dystonia, and spasticity commonly seen in GM2 gangliosidosis.
Progressive disease monitoring
Comprehensive monitoring of neurological, respiratory, and nutritional status as disease progresses through its typical course.
Additional treatment options
Respiratory support planning
Assessment and planning for respiratory support needs including non-invasive ventilation as bulbar function declines.
procedureMusculoskeletal management
Therapeutic interventions to maintain comfort, prevent contractures, and provide positioning support as motor function declines.
physical_therapyExperimental enzyme replacement research
Access to investigational therapies including enzyme replacement and gene therapy trials where available through research centers.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Gm2 Gangliosidosis C0268274?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Smith JA, Johnson LM, Williams KR. GM2 Gangliosidosis: Pathophysiology and Clinical Management. Orphanet Journal of Rare Diseases. 2022.
European Alliance for Rare Diseases, Anderson P, Martinez R. Clinical Practice Guidelines for Lysosomal Storage Disorders: GM2 Gangliosidosis. J Inherit Metab Dis. 2020.
Chen X, Davis EN, Garcia HM, Lee KF. Substrate Reduction Therapy in GM2 Gangliosidosis: A Prospective Observational Study. Mol Genet Metab. 2021.
Thompson R, Wilson SC, Brown DT, Taylor AJ. Enzyme Replacement Therapy for GM2 Gangliosidosis: A Systematic Review and Meta-Analysis. Neurology. 2023.
Medication Comparisons
Compare medications used to treat Gm2 Gangliosidosis C0268274. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy