Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease)

Muscle Nerve. 2011 Nov;44(5):737-40. doi: 10.1002/mus.22159.


Introduction: Spinobulbar muscular atrophy (SBMA) is an inherited adult-onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. Autonomic nervous system involvement (ANS) is not considered part of SBMA. The aim of this study was to assess autonomic cardiovascular function in 5 SBMA patients.

Methods: Five quantitative autonomic function tests (AFTs) were performed in 5 SBMA patients. Plasma noradrenaline (NA) concentration in patients and in 5 healthy subjects was also measured.

Results: AFTs were abnormal in 4 of the 5 patients, and plasma NA concentration was significantly reduced in patients with respect to controls.

Conclusion: The impairment of cardiovascular responses to AFTs in addition to reduced plasma NA concentration observed in our patients suggests subclinical involvement of the ANS in Kennedy disease.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Autonomic Nervous System / physiopathology
  • Autonomic Nervous System Diseases / blood
  • Autonomic Nervous System Diseases / diagnosis
  • Autonomic Nervous System Diseases / physiopathology*
  • Bulbo-Spinal Atrophy, X-Linked / blood
  • Bulbo-Spinal Atrophy, X-Linked / diagnosis
  • Bulbo-Spinal Atrophy, X-Linked / physiopathology*
  • Humans
  • Male
  • Middle Aged
  • Norepinephrine / blood
  • Receptors, Androgen / blood


  • Receptors, Androgen
  • Norepinephrine