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Doctors for Refsum Disease in Yattingudda, Hubli-Dharwad
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Patient reviews for Doctors for Refsum Disease in Yattingudda, 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, also known as classic adult Refsum Disease is an autosomal recessive neurological disease that results in the over accumulation of phytanic acid in cells and tissues. Refsum Disease typically sets in during adolescence and is diagnosed by above average levels of phytanic acid. Symptoms are:
• Scaly skin
• Difficulty in hearing
• Eye problems
• Hearing loss
HOW IS REFSUM DISEASE DIAGNOSED?
The diagnosis is based on the tests which include:
• Plain X-rays can monitor bone changes.
• MRI scan may show symmetrical changes of the corticospinal tracts, cerebellar dentate nuclei and corpus callosum.
• Slow conduction velocities are found in nerve conduction studies.
• Nerve biopsies from affected patients have onion bulb formation and targetoid inclusions have been described in Schwann's cells.
• Electroretinogram may be grossly abnormal.
HOW IS REFSUM DISEASE TREATED?
Treatment for this problem includes a phytanic acid-restricted diet, especially avoiding animal fat. These comprise of tuna and cod to. Besides this, the individual is also asked to avoid milk and similar other forms of animal produce. Treatments like Plasmapheresis are also done here.
DID YOU KNOW?
This disease is inherited and signs and symptoms can be exhibited at any age of an affected person.