Perioral and tongue fasciculations in Kennedy’s disease
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.
KeywordsKennedy disease Motor neuron disease Fasciculations Movement disorders
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.
Legend: perioral and tongue fasciculations are demonstrated. Fasciculations may be phenomenologically confused with myokymia. (MP4 3782 kb)
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