Movement Disorders in Genetic Pediatric Ataxias
نویسندگان
چکیده
منابع مشابه
Pediatric movement disorders.
PURPOSE OF REVIEW Pediatric movement disorders are a heterogeneous group of symptoms that occur in the context of a large number of different neurological diseases. Accurate diagnosis and quantification of these disorders is essential for determining outcome, appropriate treatment, and criteria for inclusion in research trials. The purpose of this review is to summarize recent advances in diagn...
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On the basis of some research evidence and consensus, identification of acute opsoclonus, ataxia, or myoclonus should prompt consideration of an underlying neuroblastoma. On the basis of some research evidence and consensus, surgical treatment options should be considered for children with dystonia, including secondary dystonias, such as those related to cerebral palsy, and include intrathecal ...
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Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these non-motor dysfunctions, sleep disorders have been recognized, although stil...
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SCAs are associated with at least 31 different genetic loci, but the responsible gene is known in only 19 of them. Causative mutations include coding CAG expansions leading to a long polyglutamine (polyQ) tract in the respective proteins (SCA1, 2, 3, 6, 7 and 17), non-coding trinucleotide or pentanucleotide expansions (SCA8, 10, 12 and 31), as well as conventional mutations (SCA5, 11, 13, 14, 1...
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Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where ...
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2020
ISSN: 2330-1619,2330-1619
DOI: 10.1002/mdc3.12937