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Gaucher Disease

Gaucher disease is a rare, progressive, inherited condition that causes a fatty substance, called glucosylceramide (also called GL-1), to build up in certain areas of the body, including the spleen, liver, and bone. Symptoms can mimic other diseases. If you suspect Gaucher disease, get tested.

​ Use this checklist to prompt a discussion with your physician.

A dry blood spot test and/or genetic testing can help early detection of Gaucher disease

Possible Symptoms of Gaucher Disease

Type 1

Onset in childhood or adulthood

• ​ Delayed growth in children

• ​ Weakness

• ​ Tiredness and fatigue

• ​ Easy bruising or bleeding

• ​ Bone or joint pain

• ​ Bones breaking without reason (fractures)

Type 2

Onset in infancy

• ​ Early onset brain damage

• ​ Poor development

• ​ Seizures

• ​ Spasticity (jerking movements)

• ​ Poor ability to suck and swallow

• ​ Enlarged spleen and liver

Type 3

Onset in childhood

• ​ Skeletal problems

• ​ Eye movement disorders

• ​ Cognitive problems

• ​ Poor coordination

• ​ Respiratory problems

• ​ Blood disorders

Resources

National Gaucher Foundation of Canada

A non-profit organization that is concerned with the health and wellbeing of those afflicted with Gaucher disease.

Health information contained herein is provided for general educational purposes only. Your healthcare professional is the single best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.

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