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<\/figure>\n\n\n\nSigns and symptoms of this disease may include \u2013<\/strong><\/p>\n\n\n\n Other symptoms may include a decrease in the development of fine motor and gross motor abilities. Fine motor refers to the ability to pick up and hold small objects, while gross motor includes movements that are performed by larger muscles such as the arms and legs.<\/p>\n\n\n\n Apart from this, there may be a persistent decrease in mental health, due to which problems such as muscle weakness, retardation, seizures, blindness or abnormally enlarged spleen can be seen.<\/p>\n\n\n\n Sandhoff disease is an ARG disorder, which means that an affected person has the defective gene passed down from his or her parents.\u00a0The disease is caused by a mutation in a gene called HEXB.\u00a0The HEXB gene\u00a0provides instructions for making a\u00a0protein that is part of beta-hexosaminidase A and beta-hexosaminidase B, two important enzymes in the nervous system.<\/p>\n\n\n\n If the HEXB gene is defective, the functions of\u00a0enzymes\u00a0called beta-hexosaminidase A and beta-hexosaminidase B can be disrupted.\u00a0These enzymes are located in the lysosome.\u00a0Lysosomes are cell organelles that contain digestive enzymes.\u00a0Inside the lysosome, these enzymes break down fatty substances and other harmful molecules.\u00a0Specifically, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.<\/p>\n\n\n\n Sandhoff disease can be diagnosed by examining the functions of an enzyme called HEXB to determine the activity of the enzymes hexosaminidase A and B. In affected individuals, both enzymes will either be absent or have very little ability to function. This disease can be easily diagnosed if either of the conditions is there.<\/p>\n\n\n\n There is no specific treatment for Sandhoff’s disease, but supportive treatment includes proper nutrition, hydration, and precautions such as keeping the airway open. Doctors believe that anti-epileptic drugs can be beneficial in curing the problem of seizures.<\/p>\n\n\n\n As the disease progresses, children with Sandhoff disease may have\u00a0seizures\u00a0, loss of vision and hearing, loss of intellectual ability (delay in learning new skills or delayed mental development), and\u00a0Paralysis-like illness can be experienced.\u00a0In such a situation, after noticing problems related to muscles, immediately tell your doctor, so that the available treatment options can be used as soon as possible.<\/p>\n","protected":false},"excerpt":{"rendered":"\n
Causes of Sandhoff’s disease<\/strong><\/h2>\n\n\n\n
Diagnosis of Sandhoff disease<\/strong><\/h2>\n\n\n\n
Sandhoff disease treatment<\/strong><\/h2>\n\n\n\n
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