Rare disease is masked for alcoholism and diabetes
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As many as seven families with a rare hereditary mutation found in the capital of genetics FBGNU “Medical Genetics Research Center” in the course of a large-scale study. Carriers of pathology already in adulthood are at risk of development of the disease, endangering their life: at the moment doctors are often unable to diagnose it correctly.
This is a transthyretin family amyloid polyneuropathy. Although the pathology is rare (statistics around the world – 1: 100 000, statistics on Russia is still unknown), its danger can not be underestimated. The first symptoms appear only after 30-35 years, and until this time carriers of pathology feel perfectly healthy. Then the progressive atrophy of muscles begins, and within 7-12 years a person dies, most often without even knowing about the true causes of deterioration of his condition. As experts say, patients with this hereditary disease neurologists usually make erroneous diagnoses and treat them incorrectly, without thinking about the hereditary nature of the disease (for example, diabetes and chronic alcoholism can cause a similar violation of the sensitivity of the limbs).
“The disease is described relatively recently, and we were only able to establish diagnostics,” said Aleksandr Polyakov, head of the DNA Diagnostics Laboratory at the Medical Genetic Science Center. – It is difficult to expect that all the neurologists are already familiar with this disease, but you can not blame them. This disease is very similar to other ailments – for example, to the disease of Charcot-Marie-Toot, or even can manifest itself in problems with the heart. The accumulation of knowledge about rare genetic diseases takes years, and the first steps have already been taken regarding this disease.
At the moment, experts have already examined about 2000 samples from all over Russia and found 12 families where there are mutation carriers. Basically, these are families from big cities – Moscow, Kazan and St. Petersburg. Most of the carriers of mutation live in the capital.