The Research Centre for Medical Genetics establishes a Register of patients with Landouzy-Dejerine muscular dystrophy

Landouzy-Dejerine muscular dystrophy (FSHD) is the third most common among hereditary muscle diseases and has its own specific features both in clinical signs and in genetic causes of its occurrence. There have been no opportunities for FSHD DNA diagnostics in Russia for a long time, though it was necessary for patients diagnosing. Today, the Research Centre for Medical Genetics establishes a Register of patients with Landouzy-Dejerine muscular dystrophy to provide their treatment.

The Register has the following objectives:

1. Assistance in confirming the suspected FSHD diagnosis. This is required to predict the course of disease and family planning.
2. Preparing a patient for inclusion in future studies of drugs developed abroad. Therefore, it is now necessary to collect any complete information about patients as part of the Russian Register of Landouzy-Dejerine muscular dystrophy.
3. Assisting patients in organizing a community to interact and exchange information, including with medical and scientific teams.

Skoblov Mikhail Yuryevich, Candidate of biological science, head of the Functional Genomics Laboratory, is this Project Manager. His laboratory developed a DNA diagnostics method for Landouzy-Dejerine muscular dystrophy, allowing confirming the diagnosis at a molecular level. Since the New Year, this diagnosis has been officially included in the price list of paid medical services of the Research Centre for Medical Genetics.

More information about the registry see on the website. http://fshd.med-gen.ru/