[Multiple phenotypic manifestations of X-linked spinobulbar muscular atrophy].

  title={[Multiple phenotypic manifestations of X-linked spinobulbar muscular atrophy].},
  author={Nadia Vandenberghe and Françoise Bouhour and Philippe Petiot and P M Gonnaud and Philippe Latour and Emmanuel Broussolle and Christophe Vial},
  journal={Revue neurologique},
  volume={165 1},
Recessive X-linked amyotrophic spinobulbar muscular atrophy (SBMA) or Kennedy disease is a neuroendocrine disorder with a slowly progressive phenotype, caused by an expansion of a polymorphic tandem CAG repeat of the androgen receptor gene. Classical clinical hallmarks include onset in the third decade of life, weakness and wasting predominantly in proximal extremity muscles, variable weakness of bulbar muscles, abundant muscle fasciculations, sensory nerve action potential abnormalities and… CONTINUE READING