[Emery-Dreifuss disease. A discussion of 2 new cases].
Two new cases of Emery-Dreifuss dystrophy in two brothers are reported. Both shared common characteristics: X-linked inheritance, early contractures, scapulo-humeroperoneal muscle weakness and wasting, cardiac conduction abnormalities with permanent atrial paralysis. A review of the literature is presented. Genetically, the disease appears as a syndrome rather than an entity because of recently published cases with dominant autosomal inheritance. Finally, contractures and their relationship with myosclerosis, notably rigid spine syndrome, are discussed. Fibrosis could be the common feature of both cardiac and muscular abnormalities. It could explain the ambiguous results of electromyogram and muscle biopsy.
Serratrice
G
G
CHU Timone, Marseille.
Guastalla
B
B
Pellissier
J F
JF
D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D003286:Contracture / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
A propos de la maladie d'Emery-Dreifuss. Discussion de deux nouvelles observations.