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Gaucher's Disease Learning Center
Symptoms could include:
- Fractures
- Bone Pain
- Enlarged Spleen
- Liver Enlarged
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Impaired Cognition
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Bruises Easily
- Fatigue
- Seizures
- Lung Diseases
- Heart valve disorde...
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Edema, Severe at Birth
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Bone pain and fractures; Cognitive impairment; Easy bruising; Enlarged spleen (splenomegaly) Enlarged liver (hepatomegaly) Fatigue; Heart valve problems; Lung disease; Seizures; Severe swelling (edema) at birth; Skin changes;
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Gaucher disease is an inherited disease, caused by a defective GBA gene. The disease is recessive, meaning that a child has to inherit a defective gene from both the mother and the father in order to have the actual condition. Type 1 affects both ...
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The results of Gaucher disease are widespread in the body and include excessive growth of the liver and spleen (hepatosplenomegaly), weakening of bones, and, in acute cases, severe nervous system damage. Many patients experience "bone crises," whi...
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Lack of the GC enzyme is caused by a mutation in the glucocerebrosidase gene. The gene is located on chromosome 1. As of 2000, there have been over 100 mutations described in this gene that causes Gaucher disease. Gaucher disease is inherited in a...
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The results of Gaucher disease are widespread in the body and include excessive growth of the liver and spleen (hepatosplenomegaly), weakening of bones, and, in acute cases, severe nervous system damage. Many patients experience "bone crises," whi...
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If more pressure is put on a bone than it can stand, it will split or break. A break of any size is called a fracture. If the broken bone punctures the skin, it is called an open fracture (compound fracture. A stress fracture is a hairline crack i...
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A fracture is a complete or incomplete break in a bone resulting from the application of excessive force. An injury may be classified as a fracture-dislocation when a fracture involves the bony structures of any joint with associated dislocation o...
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A fracture is a complete or incomplete break in a bone resulting from the application of excessive force.
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A fracture is a complete or incomplete break in a bone resulting from the application of excessive force.
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A fracture is a crack or break in a bone. It results from the application of excessive force through injuries, such as a fall or a hard blow.
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Bone pain represents one of the most debilitating side effects of the metastases of high-incidence cancers such as breast, prostate, lung, and multiple myeloma (myelomatosis). Severe bone pain is frequent, reported by greater than 65% of patients ...
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Splenomegaly is an enlargement of the spleen beyond its normal size.
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Hepatomegaly is swelling of the liver beyond its normal size. If both the liver and spleen are enlarged, it is called hepatosplenomegaly. See also: Splenomegaly
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Most of us get bruises from bumping into something from time to time. Bruising sometimes increases with age, especially in women as the capillary walls become more fragile and the skin becomes thin.
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Fatigue is a feeling of weariness, tiredness, or lack of energy.
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Fatigue is physical and/or mental exhaustion that can be triggered by stress , medication, overwork, or mental and physical illness or disease.
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Fatigue may be defined as a subjective state in which one feels tired or exhausted, and in which the capacity for normal work or activity is reduced. There is, however, no commonly accepted definition of fatigue when it is considered in the contex...
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Fatigue may be defined as a subjective state in which one feels tired or exhausted, and in which the capacity for normal work or activity is reduced. There is, however, no commonly accepted definition of fatigue when it is considered in the contex...
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Fatigue is physical and/or mental exhaustion that can be triggered by stress , medication, overwork, or mental and physical illness or disease.
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Fatigue is a feeling of exhaustion or loss of strength. The duration of fatigue for a patient with cancer has been found to last from one to two times the length of time between diagnosis and completion of treatment, so it is common for fatigue to...
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A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. See also: Generalized tonic clonic seizure; Partial (focal) seizure; Petit mal (absence) seizure; Epilepsy; Fever (...
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A seizure is a sudden change in behavior characterized by changes in sensory perception (sense of feeling) or motor activity (movement) due to an abnormal firing of nerve cells in the brain. Epilepsy is a condition characterized by recurrent seizu...
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A seizure is a sudden change in behavior characterized by changes in sensory perception (sense of feeling) or motor activity (movement) due to an abnormal firing of nerve cells in the brain . Epilepsy is a condition characterized by recurrent seiz...
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A temporary series of uncontrollable muscle spasms brought on by unusual electrical activity in the brain. Also known as convulsion, clonic seizure, or tonic-clonic seizure. A seizure is characterized by a sudden episode of un- controllable brain ...
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Lung disease is any disease or disorder that occurs in the lungs or that causes the lungs to not work properly. There are three main types of lung disease: Airway diseases - These diseases affect the tubes (airways) that carry oxygen and other gas...
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Valvular heart disease refers to several disorders and diseases of the heart valves, which are the tissue flaps that regulate the flow of blood through the four chambers of the heart.
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