Which histologic findings are characteristic 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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Answer

In some instances, nerve and muscle biopsy may have been performed in cases of KD when the diagnosis was not suspect.

  • Sural-nerve biopsy may show loss of large-diameter myelinated axons. [11]

  • In the author's series, muscle biopsy showing marked predominance of type I muscle fibers with variable and diffuse atrophy was present in 2 patients in whom biopsy material was available. [67]

  • Predominance of type II muscle fibers has been described in other cases.

  • In another series, both neurogenic and myopathic changes were reported in muscle biopsies from patients with KD, as well as in female carriers of KD. [74]

  • When such muscle fiber type predominance is present, fiber-type grouping is not easily appreciated.


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