What are the sexual predilections of Kennedy disease (KD)?

Updated: Sep 30, 2019
  • Author: Paul E Barkhaus, MD, FAAN, FAANEM; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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KD is a disease of the X chromosome; therefore, only males express the full phenotype. Affected men cannot pass the genetic trait on to their sons, but their daughters have a 100% risk of being carriers. Carrier females have a 50% risk of having sons with the disease gene and a 50% risk of having daughters who are carriers [47] .

A study of 8 heterozygous female patients with proven tandem CAG repeats showed that 50% had subclinical phenotypic expression. [26] Their clinical findings were normal, except for muscle cramps and finger tremors. Laboratory investigations showed abnormalities ranging from chronic reinnervation changes on EMG to abnormal findings on muscle biopsy. Such women are considered manifesting carriers.

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