Neurol Case Rep | Volume 1, Issue 1 | Research Article | Open Access
Kazakov V1,2*, Skorometz A1, Rudenko D1,2, Kolynin V1,2 and Stuchevskaya T1,2
1Department of Neurology, First Pavlov St. Petersburg State Medical University, Russia
2Department of Neuromuscular Disorders, University City Hospital No.2 St. Petersburg, Russia
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 including 5 of them, earlier described by Oransky (1927) and Davidenkov, Kulkova (1938), were re-examined (VK) in 1969, and in total 25 were re-examined (VK) 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 (we did not see the increase of the severity of the disease from pedigree to pedigree) and did not observe the phenomena of anticipation. In the patient who had developed the disease the (facio) scapulo peroneal phenotype was evident in the clinical picture during their first 12 to 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 “Facio Scapulo Limb Muscular Dystrophy, type 2 (FSLD2), a descending with a “jump”, with initial (facio) scapulo peroneal phenotype”. The (facio) scapulo peroneal phenotype constitutes merely a stage in the development of the FSLD2 in some members of the K kindred.
Facio scapulo humeral dystrophy; Facio scapulo limb dystrophy; Scapulo peroneal dystrophy; Clinical heterogeneity
Kazakov V, Skorometz A, Rudenko D, Kolynin V, Stuchevskaya T. 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). Neurol Case Rep. 2018; 1(1): 1004.