FROM CHILD SEE BOOK, SLOW READ WORD HENCE AWAY OUT MENTALLY RETARDED
FROM CHILD EXERCISE CYCLE,SWIM,ATHELETIC-GYM HENCE AWAY OUT MENTALLY RETARED...
DO NOT GRUMBLING CHILD. NOW SLOW QUIT, EXCELLENT INCREASE BRAIN, CHILD SEE BOOK, HOMEWORK
CHILD SEE AFAR TO ONE POIN AT FIVE-TEN MINUTE HENCE AWAY OUT MENTALLY RETARDED...DO NOT CLOSE EYE AT FIVE-TEN MINUTE
An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms.
The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity.
Gaucher disease is an inherited, genetic disorder. People inherit two copies of every geneï¿½"one from each parent.
Genes contain information about our genetic makeup, including physical characteristics such as eye color and height.
All genes that an individual inherits are organized on 23 pairs of chromosomes. Chromosomes are made of DNA and are located inside the nucleus of each cell in our body. Each chromosome contains thousands of genes. The disease is characterized by a continuum of phenotypes. The severity is extremely variable; some patients present in childhood with virtually all the complications of Gaucher disease, while others remain asymptomatic into the eighth decade of life. Gaucher disease has traditionally been divided into the following 3 clinical subtypes, delineated by the absence or presence of neurologic involvement and its progression: Type 1 - Nonneuronopathic form Type 2 - Acute neuronopathic form Type 3 - Chronic neuronopathic form In all three types, the enzyme deficiency results in a buildup of the glycolipid glucocerebroside in the bone marrow, liver, and spleen, resulting in anemia and other blood disorders, bone pain and pathologic fractures, and enlarged liver and spleen.
In Type II, the central nervous system is also affected. Patients are severely mentally retarded and have difficulty controlling their muscles. The disease progresses quickly from birth and usually is fatal by the age of two.
In Type III disease, the course is chronic and central nervous system involvement begins later on. The symptoms are the same as those of Type II. Type I disease occurs most often in Ashkenazi Jews of Eastern European origin, Type III in people of Swedish origin.
Treatment of gaucher disease :
Treatment is mainly supportive and consists of vitamins, supplemental iron or liver extract to prevent anemia caused by iron deficiency and to alleviate other hematologic problems, blood transfusions for anemia, splenectomy for thrombocytopenia, and strong analgesics for bone pain. Injections of areplacement synthetic enzyme have proven helpful. Gene therapy is an experimental approach. An oral treatment with N-butyl deoxynojirimycin (OGT 918), which inhibits glucocerebrosidase formation, is being evaluated.
Enzyme Replacement therapy is a relatively new treatment that can stop and reverse the symptoms of Gaucher Disease and improves quality of life. How it is a all life therapy, it becomes a very expensive procedure which the great majority of patients canâ€™td afford whit it, however it is the best treatment until now. Good results in neurological symptoms of Type II disease after enzyme replacement are not recognized. Splenectomies are now not commonly performed . It is usually reserved for certain situations such as when a patient with symptoms is unable to obtain enzyme replacement therapy or in those with extremely low platelet counts. These patients can have some relief of symptoms.