Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.

Tunc S
Bruggemann N
Baaske MK
Hartmann C
Grütz K
Westenberger A
Klein C
Münchau A
Bäumer T
Scientific Abstract

OBJECTIVE: A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia.

METHODS: Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena.

RESULTS: Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings. None of the patients had EMG patterns of myokymia.

CONCLUSIONS: In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia. In view of characteristic clinical signs and electrophysiological patterns with a combination of myoclonus and chorea it might be preferable to refer to these phenomena as myoclonus-chorea.

Citation
2017.Parkinsonism Relat. Disord., 40():73-75.
Publication
Beudel M, Little S, Pogosyan A, Ashkan K, Foltynie T, Limousin P, Zrinzo L, Hariz M, Bogdanovic M, Cheeran B, Green AL, Aziz TZ, Thevathasan W, Brown P
2015.Neuromodulation, 18(5):349-54.
Publication
Nowak M, Hinson EL, van Ede F, Pogosyan A, Guerra A, Quinn AJ, Brown P, Stagg CJ
2017. J. Neurosci., 37:4481-4492.
Publication
He S, Everest-Phillips C, Clouter A, Brown P, Tan H
2020. J. Neurosci., 40(20):4021-4032.
Publication
Baaske MK, Kormann E, Holt AB, Gulberti A, McNamara CG, Pötter-Nerger M, Westphal M, Engel AK, Hamel W, Brown P, Moll CK, Sharott A
2020. Neurobiol. Dis., 146:105119.
Publication
Patai EZ, Foltynie T, Limousin P, Akram H, Zrinzo L, Bogacz R, Litvak V
2022. J. Neurosci., 42(23):4681-4692.