Ann Neurol Surg | Volume 2, Issue 2 | Research Article | Open Access
Kazakov V, Skorometz A, Rudenko D, Kolynin V and Stuchevskaya
Department of Neurology, First Pavlov State Medical University of St. Petersburg, Russia
University City Hospital №2, St. Petersburg, Russia
*Correspondance to: Valery Kazakov
Fulltext PDFDuchenne in 1855 described the gradually descending variety of FSHD with extension of the
weakness from the facial, shoulder girdle and upper arm muscles with subsequent involvement
of the trunk, pelvic girdle and thigh muscles. Latter, Erb in 1882 and Landouzy – Dejerine in1884
described another variety of MD in which after weakness of the facial and shoulder-girdle muscles
the peroneal group (anterior tibial) was involved (descending with a ''jump'' variety). Davidenkov
in 1962 confirmed the existence of this very special type of MD. We studied 142 patients from 21
autosomal dominant families with this very special MD using needle EMG, motor and sensory nerve
conduction velocities, muscle biopsy, CT and MR of muscles. The new name of the disease was
offered – ''facio-scapulo-limb muscular dystrophy, type 2 (FSLD2) with initial facioscapuloperoneal
or (facio) scapuloperoneal phenotypes''. Among the observed cases we did not come across any
having the autosomal dominant gradually descending variety of FSHD called ''facio-scapulo-limb
muscular dystrophy, type 1 (FSLD1) with initial facioscapulohumoral phenotype’’. Molecular
genetic analysis of 12 Russian AD FSLD2 families in 35 affected members showed the probe p13E-
11 detected EcoRI/BlnI of DNA Fragments Size (DFS) between 13 kb - 35 kb cosegragated with
the disease and linked with 4q35. Data show that FSLD2 is a very special type of MD with «hard»
static and dynamic patterns of muscle involvement, with a mild course of the disease and slight/
severe affection of the facial muscles. We suppose that the detected DFS cannot be the criterion
for establishing the genetic heterogeneity of FSHD and for confirmation the existing of FSLD1 and
FSLD2 as a nosological entity.
Kazakov V, Skorometz A, Rudenko D, Kolynin V, Stuchevskaya T. About Nosological Place of the Facioscapuloperoneal (The Same Disease as the Facio-Scapulo-Limb, Type 2) Autosomal Dominant Muscular Dystrophy. Historical, Clinical and Molecular Genetic Study. Ann Neurol Surg. 2018; 2(2): 1014.