Living with GM1 gangliosidosis type 2
The juvenile form of GM1 gangliosidosis, an inherited condition that gradually damages nerve cells in the brain and spinal cord, noticed in childhood.
Understanding GM1 gangliosidosis type 2
GM1 gangliosidosis is grouped into three types by age of onset: classic infantile (type 1), juvenile (type 2), and adult or chronic (type 3). The types differ in severity but their features overlap a lot. Type 2 is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unsteady walk
- Low muscle tone (hypotonia)
- Loss of motor skills
- Enlarged liver
- Coarse facial features and enlarged gums
- Joint stiffness and bone differences
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. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gangliosidosis, generalized gm1, juvenile type; gangliosidosis, generalized gm1, type 2; gangliosidosis, generalized gm1, type ii; gm1 gangliosidosis type ii; gm1 gangliosidosis, type 2; gm1-gangliosidosis, type ii
Patient organizations
- Cure GM1 FoundationGM1 gangliosidosis type 2 · United States
- National Tay-Sachs and Allied Diseases AssociationGM1 gangliosidosis type 2 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with GM1 gangliosidosis type 2.
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