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[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].
Aguilera-Nieto, L, Ferrero-Turrión, J, Mora-Ramírez, MD, Calvo-Medina, R, Ruiz-García, C, Ramos-Fernández, JM
Revista de neurologia. 2020;(2):69-73
Abstract
INTRODUCTION Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. AIMS The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made. CASE REPORT A 6-year-old boy referred for language delay and hyperactivity. After six months of follow-up he begins to show chorea movements of predominantly facial and limb roots, especially when waking up. At one year of follow-up, generalized chorea at rest with orofacial involvement and awkward gait begins to show. His family history includes his mother, grandfather, maternal uncle and cousin, who were diagnosed with Meige's syndrome (oromandibular dystonia and periorbital muscles) with choreiform-like movement disorders without affiliation since childhood. The brain study by MRI showed no alterations. A clinical exome targeting movement disorders was performed that discovered the pathogenic mutation in the ADCY5 gene causing autosomal familial dyskinesia. CONCLUSION The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment.
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Use of active video gaming in children with neuromotor dysfunction: a systematic review.
Hickman, R, Popescu, L, Manzanares, R, Morris, B, Lee, SP, Dufek, JS
Developmental medicine and child neurology. 2017;(9):903-911
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Abstract
AIM: To examine current evidence on use of active video gaming (AVG) to improve motor function in children with movement disorders including cerebral palsy, developmental coordination disorder, and Down syndrome. METHOD Scopus, MEDLINE, Cochrane Library, EMBASE, and CINAHL were searched. Included papers studied the use of AVG for improving movement-related outcomes in these populations. Parameters studied included health condition, strength of evidence, AVG delivery methods, capacity for individualizing play, outcomes addressed, effectiveness for achieving outcomes, and challenges/limitations. RESULTS The 20 extracted articles varied in quality. Studies involved children with six different conditions using AVG in clinical, home, or school settings for 49 different motor outcomes. Dosage varied in frequency and duration. Choice of games played and difficulty level were therapist determined (n=6) or child controlled (n=14). The most common study limitations were small sample sizes and difficulty individualizing treatment. All articles showed improvement in outcomes with AVG, although differences were not consistently significant compared with conventional therapy. INTERPRETATION Heterogeneity of measurement tools and target outcomes prevented meta-analysis or development of formal recommendations. However, AVG is feasible and shows potential for improving outcomes in this population. Additional investigations of dosing variables, utility as a home supplement to clinical care, and outcomes with larger sample sizes are merited.
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Quadrupedal coordination of bipedal gait: implications for movement disorders.
Dietz, V
Journal of neurology. 2011;(8):1406-12
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Abstract
During recent years, evidence has come up that bipedal locomotion is based on a quadrupedal limb coordination. A task-dependent neuronal coupling of upper and lower limbs allows one to involve the arms during gait but to uncouple this connection during voluntarily guided arm/hand movements. Hence, despite the evolution of a strong cortico-spinal control of hand/arm movements in humans, a quadrupedal limb coordination persists during locomotion. This has consequences for the limb coordination in movement disorders such as in Parkinson's disease (PD) and after stroke. In patients suffering PD, the quadrupedal coordination of gait is basically preserved. The activation of upper limb muscles during locomotion is strong, similar as in age-matched healthy subjects although arm swing is reduced. This suggests a contribution of biomechanical constraints to immobility. In post-stroke subjects a close interactions between unaffected and affected sides with an impaired processing of afferent input takes place. An afferent volley applied to a leg nerve of the unaffected leg leads to a normal reflex activation of proximal arm muscles of both sides. In contrast, when the nerve of the affected leg was stimulated, neither on the affected nor in the unaffected arm muscles EMG responses appear. Muscle activation on the affected arm becomes normalized by influences of the unaffected side during locomotion. These observations have consequences for the rehabilitation of patients suffering movement disorders.