[Scapulo-peroneal weakness with tardive symptoms of facio-scapulo-humeral muscular dystrophy, connected to 4q35 chromosomal deletion].
We report the case of a 57-year-old woman, who presented with progressive weakness of ankle's dorsiflexors. Electromyography showed bilateral myogenic patterns in the anterior tibialis predominantly in the left side. Muscle biopsy of the right tibialis anterior showed non specific dystrophic changes. The familial evaluation revealed a son showing scapuloperoneal amyotrophy and facial involvement. Analysis of the propositus' DNA showed a mutation at locus 4q35, characteristic of facioscapulohumeral muscular dystrophy. This case illustrates the wide clinical spectrum of FSH dystrophy and the difficulty to diagnose unusual facial-sparing forms.
Zeevaert
B
B
Service d'Electromyographie et de Médecine de l'Appareil Locomoteur, CHU Sart Tilman, Bâtiment B35, niveau 2, 4000 Liège, Belgique.
Sadzot
B
B
Deprez
M
M
Wang
F C
FC
D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D018450:Disease Progression; D004576:Electromyography; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D012720:Severity of Illness Index; D013997:Time Factors; D014057:Tomography, X-Ray Computed
Forme scapulo-péronière à révélation tardive d'une dystrophie musculaire facio-scapulo-humérale, liée à une délétion chromosomique 4q35.