ABSTRACT
AIM: To describe clinical and genetic characteristics of patients from the Russian population with a variety of phenotypic variants of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1 (FSHD 1). MATERIAL AND METHODS: The material for the study were blood samples of 16 patients from 15 unrelated families residing in the territory of the Russian Federation, between the ages of 6 to 66 years, with symptoms of FSHD. Diagnosis was based on genealogical data analysis, neurological examination, electroneuromyographic study, indicators of activity of creatine phosphokinase (CPK) in the blood serum and molecular genetic analysis of the results, aimed at the analysis of macrosatellite D4Z4 repeats on chromosome 4. RESULTS AND CONCLUSION: The study established the diagnosis of FSHD1 in 75% of patients. The correlation of the severity and phenotypic spectrum of FSHD1 with the age of onset was found. There was the significant clinical heterogeneity even among the 1st degree relatives in the same family. The correlation between macrosatellite D4Z4 repeats and clinical features of FSHD1 described previously in the literature was not observed.
