Edoardo Ferlazzo1,2,3, Michele Ascoli1,2, Francesca Abate1, Sara Gasparini1,2, Giovanni Mastroianni2, Vittoria Cianci2, Giulia Ferrigno1, Chiara Sueri2, Tiziana D'Agostino2, Umberto Aguglia4,5,6. 1. Department of Medical and Surgical Sciences, Magna Graecia University, Germaneto, Catanzaro, Italy. 2. Regional Epilepsy Centre, Great Metropolitan Hospital Bianchi-Melacrino-Morelli, Reggio Calabria, Italy. 3. Institute of Molecular Bioimaging and Physiology, National Research Council, Germaneto, Catanzaro, Italy. 4. Department of Medical and Surgical Sciences, Magna Graecia University, Germaneto, Catanzaro, Italy. u.aguglia@unicz.it. 5. Regional Epilepsy Centre, Great Metropolitan Hospital Bianchi-Melacrino-Morelli, Reggio Calabria, Italy. u.aguglia@unicz.it. 6. Institute of Molecular Bioimaging and Physiology, National Research Council, Germaneto, Catanzaro, Italy. u.aguglia@unicz.it.
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.
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.
Entities:
Keywords:
Burke–Fahn–Marsden Dystonia Rating Scale; Genetics; Movement disorders; Myoclonus; Syndrome
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