Living with Infantile GM1 gangliosidosis
An inherited disorder in which nerve cells in the brain and spinal cord are slowly damaged, starting in infancy.
Understanding Infantile GM1 gangliosidosis
Type 1 is also called the classic infantile form. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Floppy muscle tone in infancy
- Vision loss (blindness)
- Cherry red spot in the eye
- Aspiration pneumonia
- Skeletal changes
- Differences in facial shape
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in GLB1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cure GM1 Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GLB1 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of beta-galactosidase isoenzymes a, b and c; gangliosidosis, generalized gm1, infantile form; gangliosidosis, generalized gm1, type 1; generalized gangliosidosis; gm>1< gangliosidosis, type 1; gm1 gangliosidosis type 1
Patient organizations
- Cure GM1 FoundationInfantile GM1 gangliosidosis · United States
- National Tay-Sachs and Allied Diseases AssociationInfantile GM1 gangliosidosis · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile GM1 gangliosidosis.
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