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About the facioscapuloperoneal muscular dystrophy in the famous K. kindred first described by Oransky (1927), with further re-examination by Davidenkov and Kulkova (1938), Kazakov (1969) and Kazakov et al (1993)

  • V. M. Kazakov Department of Neurology, First Pavlov State Medical University of St. Petersburg, Russia
  • A. A. Skorometz Department of Neurology, First Pavlov State Medical University of St. Petersburg, Russia.
  • D. I. Rudenko Neuromuscular Department, University City Hospital №2 of St. Petersburg, Russia.
  • V. O. Kolynin Neuromuscular Department, University City Hospital №2 of St. Petersburg, Russia.
  • T. R. Stuchevskaya Neuromuscular Department, University City Hospital №2 of St. Petersburg, Russia.

Abstract

Additional study of the K. kindred examined previously by Oransky in 1927, and further by Davidenkov and Kulkova in 1938 and then by Kazakov in 1969 (published in 1975, 1976) was carried out. Seventeen members of the K. kindred were re-examined (V.K.) in 1969, and in total 25 were re-examined (V.K.) in 1993. In 15 members from Vth and VIth generations the 4q35 p13E-11 EcoRI/BlnI DNA analysis was carried out. The disease in the K. kindred has been inherited as an autosomal dominant type for six generations. We could find the phenomena reverse of the “progressing hereditary” or “anteposition” and did not observe the phenomena of anticipation. In the patient who had developed the disease the (facio)scapuloperoneal phenotype was evident in the clinical picture during their first 12-16 years of life. The posterior thigh muscles, gluteus maximus, abdomen and not always biceps brachii were successively involved later. The muscular dystrophy in K. kindred is the special type which we prefer to call “facioscapulolimb muscular dystrophy, type 2 (FSLD2), a descending with a “jump”, with initial (facio)scapuloperoneal phenotype”. The (facio) scapuloperoneal phenotype constitutes merely a stage in the development of the FSLD2 in some members of the K. kindred.