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Gaucher'S Disease Type II
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that is caused by homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. There are three types: Type 1, the most common form, causes liver and spleen enlargement, bone pain and fractures (broken bones), and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age. Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2. In type 3, there may be liver…
Resources
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Talk with people who understand, share what helps, and find support from others living with gaucher's disease type ii. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.