Essay about Types and Treatment of Sandhoff Disease

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Sandhoff disease is an uncommon hereditary condition that—along with several other disorders—was previously known as amaurotic idiocy. Sandhoff disease destroys nerve cells (neurons) in the brain and spinal cord little by little over time. The disease is described as the buildup of lipid-containing cells in the internal organs and in the nervous system, mental retardation, and loss of sight. It is one of over 50 hereditarily inherited conditions identified as Lysosomal Storage Diseases
The disease was discovered by Konrad Sandhoff (1939- ), a German biologist. Konrad Sadhoff studied the biochemistry of both sphingolipids and gangliosides and in October 1966, he acquired a frozen autopsy substance from a child with amaurotic idiocy.
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They also develop an overstated surprised response to brash sounds. As the disorder develops, children with Sandhoff disease encounter seizures, vision and hearing loss, intellectual incapacity, and immobility. An eye deformity known as a cherry-red spot, which can be recognized with an eye inspection, is distinctive of this disease. Several affected children also have engorged organs or bone irregularities. Most children with the severe infantile form of Sandhoff disease typically live only until early childhood.
Anybody can be a carrier of Sandhoff disease. When parents are mutual carriers, each child has a 25% of getting the disorder. The carrier rate for the over-all populace is small, around 1/600 and it is still unclear whether Sandhoff disease is more common in any specific populace, but may have a greater carrier rate in more than a few slightly remote populations. Based from medical records, the disease is more common in the Creole populace of northern Argentina, the Metis Indians in Saskatchewan, Canada, and the populace from Lebanon.


There are only three categories of Sandhoff disease—classic infantile, juvenile, and adult late onset. Each form is categorized by the severity of the symptoms and the stage of development at which the patient exhibits these indicators. The three forms are:
• The Classic infantile form of the disorder is

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