Specialists of the Medical Genetic Research Center (MGNTs) have identified a disease that has never been encountered in Russia before, this is Ehlers-Danlos syndrome with kyphoscoliosis, the center's press service reported.
For a year and a half, researchers from the DNA diagnostics laboratory of the Moscow State Scientific Center analyzed the results of studies of patients with various types of muscle pathology and connective tissue pathology, the press service explained.
“According to numerous data, we saw that the same mutation is repeated in the FKBP14 gene. We found out that there is a separate nosological form - Ehlers-Danlos syndrome with kyphoscoliosis, and this mutation is characteristic of him. Previously, doctors were unfamiliar with such a nosological form,”said Alexander Polyakov, head of the DNA diagnostics laboratory at the Moscow State Scientific Center, whose words are quoted in the message.
The cause of Ehlers-Danlos syndrome with kyphoscoliosis was only described in 2012. The disease is rare, but 20 patients have already been identified in Russia, which is half of the world's number of patients, the press service said.
Ehlers-Danlos syndrome with kyphoscoliosis is a connective tissue disorder that is accompanied by severe joint hypermobility, fragile and hyper-extensible skin, severe muscular hypotension from birth, and progressive scoliosis.