Clinical variability of facioscapulohumeral muscular dystrophy in russia

Abstract

One hundred forty-two patients (66 men and 76 women) from 20 autosomal-dominant pedigrees and 3 families including 5 "sporadic" cases were examined. A great similarity of clinical manifestations among those affected was noted. Clinical variability of phenotypes reflecting various phases of the disease and different expressions of the mutant gene were always within the limits of the identical final phenotype of the disease, namely the facio-scapulo-humero-peroneal-femoro (posterior group of the muscles)-gluteal (gluteus maximus). Thus, the clinically and genetically homogeneous group of patients with autosomal-dominant descending with a "jump" form of facioscapulohumeral dystrophy (FSHD), called facioscapuloperoneal dystrophy (FSPD), was examined. Among the observed cases we did not come across any having the autosomal-dominant gradually descending form of FSHD, called facioscapulolimb dystrophy (FSLD), in which the pelvic and proximal lower limb muscles get weak earlier than in the peroneal group (anterior tibial) muscles. We could not reveal the "pure" facioscapulohumeral phenotype of muscle weakness in 142 examined patients. A "pure" FSHD does not exist as a nosological entity. It represents only the syndrome which characterizes the initial phase of FSLD, but not of the FSPD. It is quite probable that FSPD and FSLD which may be differentiated clinically are two different diseases connected with the mutation of allelic or even different genes. Linkage studies in FSPD and FSLD mapping genes would confirm this data.

Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy

“…Sixteen patients from a large FSHD population in our neuromuscular clinic were identified with “severe” disease: for the purpose of the study, the minimum criteria for enrollment were an inability by patients to raise straightened arms above horizontal level and/or fully dorsiflex the ankles 6. All patients were ambulant with or without assistance; facial weakness was not quantified.…”

Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment

“…From a patient cohort that regularly attended the clinic, 16 patients were selected with a relatively advanced stage of disease: for purposes of the study, the minimum criteria for enrollment were an inability by patients to raise straightened arms above horizontal level and/or fully dorsiflex the ankles [14].…”

The Autosomal Dominant Facioscapuloperoneal Muscular Dystrophy with 4q35 Chromosomal Deletion in Two Russian Families

“…Thus, our present clinical, CT and MRI study data, as well as our more early investigations, show that the facioscapuloperoneal muscular dystrophy (or FSLD2, a descending type with a "jump" with initial FSP phenotype -author's note) is probably an independent form of muscular dystrophy which is different from classical FSHD (or FSLD1, a gradually descending type with initial FSH phenotype -author's note) [22,25,26,[29][30][31][32][33][34]. It is possible that that these disorders are connected with the various 4q35 chromosomal mutations.…”

“…Muscle strength of 66 muscle pairs and muscle groups including the isolated portions of some muscles was measured manually according to Daniels et al [23] [24]. Mimic muscle strength, degree severity of the disease and dailylife work disability were measured according to the criteria compiled by Kazakov [25,26]. In all the patients the Southern blot of DNA analysis was carried out by EcoRI/BlnI double digestion using the 4q35 probe p13E-11 (D4F104S1) and other 4q35 markers (D4S139,D4S153) and the conventional linear gel electrophoresis which was fulfilled at the Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan [27].…”