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Doctors for Refsum Disease in Mammigatti, Hubli-Dharwad
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Patient reviews for Doctors for Refsum Disease in Mammigatti, Hubli-Dharwad
Lybrate User's review for Dr. Ashutosh Wahi
dr wahi marvelous his experience appear in way of asking to patient. Read more reviews
Kalmesh's review for Dr. R. V. Desai
yea it was nice meeting doctor .... was satisfied with hi consultant Read more reviews
Refsum disease is a genetic disorder which occurs a consequence of the disruption of lipid metabolism. Under this condition, myelin sheath which insulates and protects the nerves of the brain, fails to grow.It is caused by the accumulation of a fatty acid known as phytanic acid, in blood plasma and tissues.Symptoms include vision impairment, degenerative nerve disease, failure of muscle coordination, and bone and skin changes, in addition to night blindness, loss of peripheral vision, and numbness and weakness associated with failure of muscle coordination.
HOW IS REFSUM DISEASE DIAGNOSED?
Diagnosis is done by a neurologist who would check for physical symptoms and do MRI and CT scan to check for nerves damage.
HOW IS REFSUM DISEASE TREATED?
Patients affected with Refsum Disease are usually placed on a diet that has restricted levels of phytanic acid. They are also advised to cut down on fat from ruminant fish and tuna fish.
DID YOU KNOW?
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.