Neurological Sciences

, Volume 39, Issue 4, pp 777–779 | Cite as

Perioral and tongue fasciculations in Kennedy’s disease

  • José Luiz Pedroso
  • Thiago Cardoso Vale
  • Orlando G. Barsottini
  • Acary S. B. Oliveira
  • Alberto J. Espay
Letter to the Editor

Abstract

We report the case of a 54-year-old right-handed man who presented with a 2-year history of progressive upper-limb weakness with mild dysarthria and prominent involuntary perioral abnormal movements that were characterized as fasciculations. Electromyography disclosed motor neuron disease. The diagnosis of Kennedy’s disease was established by polymerase chain reaction. Perioral abnormal movements and fasciculations may represent important clinical clues to the diagnosis of Kennedy’s disease, particularly when associated with proximal muscle atrophy and gynecomastia. In suspected cases, genetic testing for elevated CAG repeats in the androgen receptor Xq12 gene is warranted.

Keywords

Kennedy disease Motor neuron disease Fasciculations Movement disorders 

Notes

Contributorship statement

Conception and design: Dr. Pedroso, Dr. Barsottini. Organization and execution: Dr. Pedroso, Dr. Vale. Manuscript preparation: Dr. Pedroso, Dr. Vale, Dr. Barsottini. Manuscript review and critique: Dr. Pedroso, Dr. Vale, Dr. Barsottini, Dr. Oliveira, Dr. Espay.

Compliance with ethical standards

Conflicts of interest

Dr. Pedroso declares no conflicts of interest.

Dr. Vale declares no conflicts of interest.

Dr. Barsottini declares no conflicts of interest.

Dr. Oliveira declares no conflicts of interest.

Dr. Espay is supported by the NIH (1K23MH092735) and has received grant support from Great Lakes Neurotechnologies and the Michael J Fox Foundation; personal compensation as a consultant/scientific advisory board member for Abbvie, TEVA, Impax, Merz, Acadia, Cynapsus, Lundbeck, and USWorldMeds; royalties from Lippincott Williams and Wilkins, Cambridge University Press, and Cambridge; and honoraria from Abbvie, USWorldMeds, Lundbeck, Acadia, the American Academy of Neurology, and the Movement Disorders Society.

Supplementary material

VIDEO 1

Legend: perioral and tongue fasciculations are demonstrated. Fasciculations may be phenomenologically confused with myokymia. (MP4 3782 kb)

References

  1. 1.
    Sinnreich M, Klein CJ (2004) Bulbospinal muscular atrophy-Kennedy’s disease. Arch Neurol 61:1324–1326CrossRefPubMedGoogle Scholar
  2. 2.
    Finsterer J (2009) Bulbar and spinal muscular atrophy (Kennedy’s disease): a review. Eur J Neurol 16:556–561CrossRefPubMedGoogle Scholar
  3. 3.
    Fu SC, Kuo HC, Chu CC et al (2013) Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan. J Formos Med Assoc 112:326–331CrossRefPubMedGoogle Scholar
  4. 4.
    Rohani M, Miri S (2015) Teaching video NeuroImages: hand tremor, tongue and perioral fasciculation in a patient with Kennedy disease. Neurology 84:e76CrossRefPubMedGoogle Scholar
  5. 5.
    Aicua I, Verhagen O, Arenaza N, Cubo E (2014) Head and arm tremor in X-linked spinal and bulbar muscular atrophy. Tremor Other Hyperkinet Mov 4:265Google Scholar

Copyright information

© Springer-Verlag Italia S.r.l. 2017

Authors and Affiliations

  • José Luiz Pedroso
    • 1
  • Thiago Cardoso Vale
    • 2
  • Orlando G. Barsottini
    • 1
  • Acary S. B. Oliveira
    • 3
  • Alberto J. Espay
    • 4
  1. 1.Division of General Neurology and Ataxia Unit, Department of Neurology and NeurosurgeryUniversidade Federal de São PauloSão PauloBrazil
  2. 2.Movement Disorders Unit, Neurology Service, University Hospital, Department of Internal Medicine, Faculty of MedicineFederal University of Juiz de Fora (UFJF)Juiz de ForaBrazil
  3. 3.Division of Neuromuscular Disorders, Department of Neurology and NeurosurgeryUniversidade Federal de São PauloSão PauloBrazil
  4. 4.Gardner Family Center for Parkinson’s Disease and Movement Disorders, Department of NeurologyUniversity of CincinnatiCincinnatiUSA

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