Gm2 Gangliosidosis B1 Variant C2749283
A genetic condition causing harmful fat buildup in brain cells, resulting in developmental regression and neurological decline. Children are typically affected early in life. Management is supportive.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Feeding difficulties
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Coarse facial features
(neurologic)Swallowing difficulties
(neurologic)Cognitive regression
(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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure management
Anticonvulsant medications to control seizure activity, which is common in GM2 gangliosidosis B1 variant. Regular neurological monitoring is essential to adjust therapy as the disease progresses.
Multidisciplinary supportive care
Coordinated care involving neurology, pulmonology, gastroenterology, and palliative care specialists to address progressive neurological decline and associated complications.
Additional treatment options
Nutritional support
Assessment and management of nutritional needs including consideration of gastrostomy feeding when oral intake becomes unsafe due to swallowing difficulties.
dietaryPhysical and occupational therapy
Therapeutic interventions to maintain motor function, prevent contractures, and support activities of daily living as function declines.
physical_therapyRespiratory therapy and clearance techniques
Airway clearance techniques and support for managing secretions and preventing respiratory infections, which are a common cause of morbidity.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Gm2 Gangliosidosis B1 Variant C2749283?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy