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01-06-2021 | Dystonia | Original Communication

Dystonia in Angelman syndrome: a common, unrecognized clinical finding

Authors: Edoardo Ferlazzo, Michele Ascoli, Francesca Abate, Sara Gasparini, Giovanni Mastroianni, Vittoria Cianci, Giulia Ferrigno, Chiara Sueri, Tiziana D’Agostino, Umberto Aguglia

Published in: Journal of Neurology | Issue 6/2021

Abstract

Introduction

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by cognitive disability, speech impairment, hyperactivity and seizures. Movement disorders have been reported in almost all AS subjects and they are described as “tremulous movements of limbs, unsteadiness, clumsiness or quick, jerky motions”. The presence of dystonia has barely been mentioned in subjects with AS and has never been studied in detail. The purpose of this study is to evaluate the prevalence, clinical features and severity of dystonia in a series of adolescents and adults with AS.

Methods

Whole body video recordings of patients with genetically confirmed AS were evaluated. Dystonia was evaluated by mean of the movement subscale of Burke–Fahn–Marsden Dystonia Rating Scale (BFM).

Results

Forty-four subjects with AS were evaluated. Fourteen recordings were excluded due to poor cooperation. We finally analyzed data of 30 subjects (15 F) with a median age of 28 years (range 15–51). Dystonia was present in 28/30 (93.3%) subjects. Among these, dystonia involved the upper limbs in 28/28 (100%), lower limbs in 8/28 (28.5%), mouth in 7/28 (25%), neck in 3/28 (10.7%), trunk in 1/28 (3.6%). Severity of dystonia ranged from slight to moderate. There was a linear correlation between severity of dystonia and increasing age. There was no difference in terms of severity of dystonia among genetic subgroups.

Conclusions

Dystonia is a common and previously underrecognized clinical feature of adults and adolescents with AS.

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Title: Dystonia in Angelman syndrome: a common, unrecognized clinical finding
Authors: Edoardo Ferlazzo
Michele Ascoli
Francesca Abate
Sara Gasparini
Giovanni Mastroianni
Vittoria Cianci
Giulia Ferrigno
Chiara Sueri
Tiziana D’Agostino
Umberto Aguglia
Publication date: 01-06-2021
Publisher: Springer Berlin Heidelberg
Keywords: Dystonia
Movement Disorder
Published in: Journal of Neurology / Issue 6/2021
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-10395-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Dystonia in Angelman syndrome: a common, unrecognized clinical finding

Abstract

Introduction

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusions

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