Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Inclusion on this list is not an endorsement by GARD.Living with a genetic or rare disease can impact the daily lives of patients and families. Storage however can also occur in the nervous system, lungs and heart. Faltering weight Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Low number of red blood cells or hemoglobin Unusual breathing patterns While you may experience severe symptoms & signs, it is also possible to have no symptoms or signs at all. "Orphanet: "Gaucher disease - ophthalmoplegia - cardiovascular calcification." "National Gaucher Foundation: "About Gaucher Disease."  19th edition, Saunders Elsevier, 2011. They may be able to refer you to someone they know through conferences or research efforts. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. This information comes from a database called the Making a diagnosis for a genetic or rare disease can often be challenging. Gauchers Association: "Living with Gaucher Disease. GD 2; Gaucher disease, infantile cerebral; Gaucher disease, acute neuronopathic type Susceptibility to respiratory infections Lasix (furosemide) is a loop diuretic (water pill) that prevents your body from absorbing too much salt. Poor feeding Two carriers have a 25% chance of having an unaffected child with two normal genes (left), a 50% chance of having an unaffected child who also is a carrier (middle), and a 25% chance of having an affected child with two recessive genes (right).Gaucher disease is passed along in an inheritance pattern called autosomal recessive. If you have questions about getting a diagnosis, you should contact a healthcare professional.The resources below provide information about treatment options for this condition. It … Difficulty breathing rare disease research! Last updated: 9/1/2020 Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. Involuntary muscle stiffness, contraction, or spasm

The National Gaucher Foundation (NGF) is an independent nonprofit dedicated to serving U.S. patients with Gaucher disease and their families. Through financial support, educational programming, patient services, and collaboration with medical professionals, NGF empowers Gaucher … Inward turning cross eyed Increased reflexes Through financial support, educational programming, patient services, and collaboration with medical professionals, NGF empowers Gaucher patients to live a better today.National Gaucher Foundation 5410 Edson Lane #220 Rockville, MD 20852 800-504-3189The most common symptoms and signs of Gaucher Disease are a swollen belly, easy bruising (low platelet count), bleeding problems that are difficult to stop, anemia (low blood counts), fatigue (excessive tiredness), bone pain/easily fractured bones, and in some cases, respiratory problems. , December 2008. Type 1 is by far the most common.Siblings, even identical twins, with the disease can have different levels of severity. Other Answers On: Below is an in-depth explanation of all of the symptoms and signs of Gaucher Disease. Degeneration of cerebrum Some people who have Gaucher disease have only mild or no symptoms.Most people who have Gaucher disease have varying degrees of the following problems:More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. If you have problems viewing PDF files, download the latest version of Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311