Kennedy disease

external

• Synonyms

  • Spinal and bulbar muscular atrophy
  • SBMA
  • Spinobulbar muscular atrophy

• Causes

  • AR gene mutation

• Effects

  • Bulbar palsy
  • Cerebellar ataxia
  • Lower motor neurone lesion
  • Gynaecomastia
  • Impotence
  • Infertility
  • Testicular atrophy

• Parents

  • Triplet repeat disease
  • X-linked recessive disorder
  • Spinal muscular atrophy

• Description

  • "Androgen receptor mutation Spinal and bulbar muscular atrophy Gene provides instructions for making a protein called an androgen receptor. Unclear how the altered protein disrupts nerve cells in the brain and spinal cord. "