Living with Gaucher disease type III
A form of Gaucher disease that slowly affects the brain and also causes an enlarged liver and spleen, bone problems, and low blood counts.
Understanding Gaucher disease type III
It combines a slowly worsening brain condition (progressive encephalopathy) with the body-wide features of type 1, which are an enlarged liver and spleen, bone problems, and low blood cell counts. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Balance and walking problems (ataxia)
- Seizures
- Eye movement problems
- Enlarged liver
- Bone pain
- Slower growth and delayed puberty
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 autoimmune and inflammatory disease specialists, bone and joint specialists, brain and nervous system specialists and eye disease specialists.
- 3Consider genetic testing
Changes in GBA1 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
National Gaucher Foundation (NGF) and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: National Gaucher Foundation (NGF), 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 National Gaucher Foundation (NGF) 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 GBA1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cerebral juvenile and adult form of gaucher disease; chronic neuronopathic gaucher disease; gaucher disease type 3; gaucher disease type 3 (subacute/chronic); gaucher disease, chronic neuronopathic type; gaucher disease, juvenile and adult, cerebral
Patient organizations
- National Gaucher Foundation (NGF)Gaucher disease type III · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Gaucher disease type III.
Explore research for Gaucher disease type III
Explore actively recruiting Gaucher disease type III studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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