Living with GM1 gangliosidosis
An inherited disorder that destroys nerve cells in the brain and spinal cord, with types that start in infancy, childhood, or later.
Understanding GM1 gangliosidosis
It is grouped into three main types by when signs start, but the types overlap and may be a spectrum. The most severe, the infantile form (type I), usually starts by 6 months. Infants seem typical until their development slows and the muscles weaken, and they then lose skills they had gained. Over time they can have an enlarged liver and spleen, bone changes, seizures, and profound intellectual disability. Type II is the late infantile or juvenile form.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowing of development and loss of skills
- Weakening of the muscles used for movement
- Unsteady walk and movement problems
- Seizures
- Bone and spine differences
- Enlarged liver and spleen
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, genetic specialists and seizure and epilepsy 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); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- 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: beta-galactosidase deficiency; beta-galactosidase-1 deficiency; deficiency of beta-galactosidase; gangliosidosis gm1; glb1 deficiency; gm>1< gangliosidosis
Patient organizations
- Cure GM1 FoundationGM1 gangliosidosis · United States
- National Tay-Sachs and Allied Diseases AssociationGM1 gangliosidosis · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with GM1 gangliosidosis.
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