Facial dystonia: clinical features, prognosis and pharmacology in 31 patients

Abstract

The natural history and response to different treatments were assessed in 31 consecutive patients with blepharospasm (BS) and/or oromandibular dystonia (OMD). The mean age at onset was 52.4 years and there was a female preponderance of 2.5 to 1. Ocular symptoms preceded the onset of blepharospasm in more than 50% of the affected patients, whereas psychiatric and dental problems prior to the onset of focal dystonia were found in 10% and 13% of the cases respectively. Dystonia elsewhere, mainly in the craniocervical area, was found in 23% of patients and appeared to follow a somatotopic progression. The first 2–3 years of history were crucial for the spread of dystonia to other face and body parts. When OMD was the first symptom, a lower tendency of dystonia to progress elsewhere was observed. A putative cause was found in 14% of patients who showed clinical and radiographic evidence of basal ganglia or rostral brainstemdiencephalon lesions. The response to different drugs was inconsistent although transient improvement was induced by haloperidol in 6 patients, by L-Dopa plus deprenyl in 3 patients, by trihexyphenidyl in 2 patients and by clonazepam in 2 patients. One, apparently spontaneous, remission was observed. Botulinum A toxin was iniected in the orbicularis oculi of 8 patients affected by BS: moderate to marked improvement lasting 5 to 30 weeks (mean 14.5 weeks) was achieved in all cases; transient ptosis, lasting 1 to 3 weeks, occurred in 3 cases.

Sommario

La storia naturale e la prognosi della distonia faciale sono state valutate in una serie di 31 consecutivi pazienti con blefarospasmo (BS) e/o distonia oromandibolare (OMD) (età di esordio: 19–75 anni; durata di malattia: 1–15 anni; rapporto maschi/femmine: 2.5/1). Sintomi oculari precedevano l'insorgenza del BS in oltre il 50% dei pazienti, mentre anomalie dentali e problematiche psichiatriche comparivano come prodromi nel 10% e nel 13% dei casi rispettivamente. La sintomatologia distonica diffondeva, con andamento somatotopico, oltre il distretto cranio faciale nel 23% dei casi. Evidenze cliniche o radiologiche di lesioni dei gangli della base, della parte rostrale del tronco dell'encefalo o del diencefalo erano presenti solo nel 13% dei casi. Un lieve ma transitorio miglioramento della sintomatologia distonica era indotto da aloperidolo in 6 pazienti, da 1-dopa+deprenyl in 3, da triesifenidile in 2 e da lonazepam in 2. Solo 1 paziente andava incontro a remissione apparentemente spontanea della sintomatologia distonica dopo un anno di malattia. L'iniezione di tossina botulinica di tipo A negli orbicolari delle palpebre di 8 pazienti con BS induceva un sensibile miglioramento della sintomatologia distonica che persisteva per 5–30 settimane (media 14.5 settimane) con ridotti effetti collaterali locali (transitoria ptosi in 3 casi).