The Facio-Scapulo-Limb (or the Facioscapulohumeral) Type of Muscular Dystrophy

Abstract

200 case histories were analyzed (108 males and 92 females). 55 patients were under the author’s personal observation, 145 cases were taken from the literature. There were 163 hereditary and 37 ‘sporadic’ cases. Both the patterns of distribution of muscular atrophies in different phases of the disorder and the changes in their extension throughout the whole course of the disease process were studied. According to the data on the clinical manifestation and genetics, the facioscapulohumeral type can be considered as an independent form. The best name for it is ‘facio-scapulo-limb (FSL) muscular dystrophy’, adding the eponym ‘Duchenne-Lan-douzy-Déjerine’. There are two varieties of the extension of muscular atrophies in the FSL type: the gradually descending variety and the more frequent descending one, characterized by a ‘jump’ from the upper part of the body to the peroneal group of the shin muscles (the descending variety with a ‘jump’). Five clinical syndromes were distinguished, representing various phases in the two varieties of FSL muscular dystrophy. In particular, the facio-scapulo-(humero)-peroneal syndrome may be the principal stage in the disease process. The findings confirm the existence of the autosomal-dominant type of inheritance of FSL muscular dystrophy with complete penetrance and variable expressivity of the gene. Genealogical analysis of 62 families suggests the existence of a clinical and genetic heterogeneity in FSL myodystrophy.

Scapulothoracic Fusion for Facioscapulohumeral Muscular Dystrophy

“…While scapulothoracic fusion allows the deltoid muscle to elevate the humerus to positions of abduction and flexion above the horizontal plane, it cannot lead to a full range of motion because the full arc of humerothoracic motion requires both scapulothoracic and glenohumeral motion in a ratio of 1° to 2° or 2° to 3°1 5,28,29 . Previously reported scapulothoracic stabilization procedures that were performed to treat facioscapulohumeral muscular dystrophy tended to result in abduction of only 90° to 110°.…”

“…Facioscapulohumeral muscular dystrophy may be progressive and may be characterized by additional weakening of affected muscles of the upper and lower limbs 5 . The improvement in active range of motion of the shoulder after scapulothoracic fusion relies primarily on the maintenance of deltoid muscle function.…”

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.…”

Atypical facio‐scapulo‐humeral muscular dystrophy — a counselling dilemma

“…Significant calf hypertrophy in FSH however is rare, although it has been reported, in isolated cases (Rossi et al 1985, Tyler & Stephens 1950. It was not present in 18 cases reported by Walton 8c Nattrass (1954) or among 200 cases reviewed by Kazakov et al (1974). Adam commented on the prominence and fmness of the deltoids and glutei in FSH but stated that it occurred without the hypertrophy of Duchenne or Becker muscular dystrophy (1975).…”