Genetic Counseling for Adult-Onset Spinal and Bulbar Muscular Atrophy (Kennedy Syndrome): Multiple Cases of Prenatal Testing in a Family

Adv Exp Med Biol. 2020;1195:199-204. doi: 10.1007/978-3-030-32633-3_28.


X-linked spinal and bulbar muscular atrophy (SBMA), also known as Kennedy syndrome, is an adult-onset neurodegenerative disorder characterized by slowly progressive muscle atrophy and other severe symptoms gradually leading to reduced mobility and ultimately to death due to respiratory failure. Two decades ago we reported the first prenatal diagnosis of SBMA worldwide. Here we present a Greek family in which we have performed seven prenatal DNA tests for SBMA mutation after extensive genetic counseling. Since there is not yet a cure for SBMA, prenatal testing may be a good choice for couples at risk for prevention of this neurodegenerative disorder in their offspring. The issues addressed during genetic counseling for such a disabling disorder of adult onset are discussed as a paradigm for other conditions with similar characteristics.

Keywords: Androgen receptor; Genetic counseling; Kennedy syndrome; Late-onset disorder; Neurodegenerative disease; Prenatal testing; Trinucleotide repeat expansion.

MeSH terms

  • Adult
  • Bulbo-Spinal Atrophy, X-Linked / complications
  • Bulbo-Spinal Atrophy, X-Linked / diagnosis*
  • Bulbo-Spinal Atrophy, X-Linked / genetics*
  • Family Health*
  • Female
  • Genetic Counseling*
  • Greece
  • Humans
  • Muscular Atrophy / complications
  • Mutation*
  • Pregnancy
  • Prenatal Diagnosis*