Emilie Guettard

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BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental(More)
OBJECTIVE To investigate the effect of a combination of botulinum toxin A (BTX-A) and rehabilitation on spasticity, pain and motor functioning in children with acquired brain injury (ABI). METHODS All children and adolescents with ABI, aged 2-20 years, consecutively treated in the department over a 22-month period, were prospectively followed-up and(More)
BACKGROUND Cervical myelopathy (CM) in patients with cerebral palsy (CP) is underdiagnosed as symptoms of spinal cord lesions, being similar to those due to dystonia, may be overlooked or identified late. The aim of this study is to identify the risk factors and clinical characteristics of CM in patients with generalised dystonia, including dystonic CP. (More)
Speech disturbances are frequent and potentially disabling in patients with dystonia or chorea due to neurometabolic disorders (DCND), but their precise characteristics are poorly documented. We prospectively studied 29 consecutive patients with DCND. A detailed description of their speech patterns was obtained by using the Frenchay dysarthria assessment(More)
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