Sandhoff's Disease by evan pietrzak

Sandhoff's disease is a genetic disease that is abnormal for the function of the hexosaminidase B enzyme. This gene is abnormality results deficiency of hexosaminidase A and B. This can result in accumulation in lipids that are called GM2 gangliossides in neurons and other tissues.

The average rate at which humans and other species in the world that get this disease is commonly not seen in a America since this disease is very rare, it is mostly found more often in northern Argentina, the Metis Indians that live in Saskatchewan, Canada and Lebanon.

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Sandoff's Disease can only be diagnosed by testing the patient's DNA because the disease is a gene mutation. The symptoms of Sandhoff's Disease can begin in childhood and can go beyond further into adulthood. muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness.

Sandhoff's disease does not have a certain treatment but there are some home remedies than can treat it. Proper nutrition and hydration are two very important concepts in solving this issue.

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Sandhoff's disease has a very wide variety of prognosis's. They usually appear differently such the infantile form which is considered fatal and affected by children and they can usually die from this case as early as the age of 3. But for a more older child the prognosis is called Juvenile Sandhoff Disease which is filled with onsets at the ages between 2 and 5 and these kids are able to survive through their late youth or teenage years.

Sandhoff's disease doesn't really have a genetic pattern. Sometimes it can be if a childs mother of father had it on one of their sides of the family and skip a generation or be passed down to their child.

Currently scientists are researching on ways we can prevent and teach others how TO prevent this dangerous disease. One idea that they have found is "Enzyme replacement therapy" or ERT but they have not yet figured out how successful these enzyme replacemens can be even with direct administration to the person's central nervous system.

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Credits:

Created with images by Lisa Padilla - "play dna structure" • CDC Global Health - "PEPFAR, CDC, and Siemens Health Collaborate to Launch “Stronger Together,” a New 5-year, $15M Public-Private Partnership" • valelopardo - "laboratroio samples technical" • skeeze - "surgery surgeons operation"

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