New algorithm for the diagnosis of hereditary dystonia

Camargos, Sarah Teixeira; Cardoso, Francisco

doi:10.1590/s0004-282x2012000900013

Cited by 4 publications

(3 citation statements)

References 21 publications

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“…Here, a thorough examination is conducted to identify the full spectrum of clinical abnormalities. The exam may be supplemented by laboratory studies or neuroimaging, and various algorithms have been proposed to guide workup of certain RMD . Collectively, the findings constitute a pattern of clinical and laboratory features that point to a diagnosis.…”

Section: Diagnostic Strategiesmentioning

confidence: 99%

“…The exam may be supplemented by laboratory studies or neuroimaging, and various algorithms have been proposed to guide workup of certain RMD. 59,[61][62][63] Collectively, the findings constitute a pattern of clinical and laboratory features that point to a diagnosis. For example, the combination of any movement disorder with impaired range of eye movements and hearing loss is suspicious for a mitochondrial disorder, especially when combined with evidence for elevated plasma lactic acid.…”

Section: Diagnostic Strategiesmentioning

confidence: 99%

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Treatable inherited rare movement disorders

Jinnah

Albanese²,

Bhatia

et al. 2017

Movement Disorders

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There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well‐known historical examples include Wilson disease and dopa‐responsive dystonia, for which specific and highly effective treatments have life‐altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society

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Section: Diagnostic Strategiesmentioning

confidence: 99%

Section: Diagnostic Strategiesmentioning

confidence: 99%

Treatable inherited rare movement disorders

Jinnah

Albanese²,

Bhatia

et al. 2017

Movement Disorders

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“…To overcome this challenge, a wide-ranging algorithm, constructed on the clinical basis for the diagnosis of hereditary dystonias in which genetic testing is possible, was created ( Figure 3). In a didactic and pragmatic approach, dystonia was categorized into pure dystonia, dystonia associated with other movement disorders or paroxysmal dystonias 36 …”

Section: Genetic Factorsmentioning

confidence: 99%

Understanding dystonia: diagnostic issues and how to overcome them

Camargos

Cardoso

2016

Arq. Neuro-Psiquiatr.

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The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the complete understanding of its pathophysiology, lack of animal models for translational studies, absence of a consistent pathological substrate and highly variable phenotypes and genotypes. The aim of this review article is to provide an overview of the clinical, neurophysiological and genetic features of dystonia that can help in the identification of this movement disorder, as well as in the differential diagnosis of the main forms of genetic dystonia. The variation of penetrance, age of onset, and topographic distribution of the disease in carriers of the same genetic mutation indicates that other factors -either genetic or environmental -might be involved in the development of symptoms. The growing knowledge of cell dysfunction in mutants may give insights into more effective therapeutic targets.Keywords: dystonia; apoptosis. RESUMOO diagnóstico e o tratamento da distonia podem ser desafiadores. Isso se dá provavelmente a pouca compreensão da fisiopatologia, a falta de modelos animais para estudos translacionais, ausência de um substrato patológico consistente e genótipo e fenótipo altamente variáveis. O objetivo deste artigo de revisão é fornecer uma visão geral dos aspectos clínicos, neurofisiológicos e genéticos de distonia que podem ajudar na identificação deste distúrbio do movimento, bem como no diagnóstico diferencial das principais formas de distonia hereditária. Há uma ênfase particular na nova definição e classificação da Internacional das Distonias, bem como as recentes descobertas dos mecanismos moleculares subjacentes em algumas formas de distonia primária. A variação de penetrância, idade de início, e distribuição topográfica da doença em portadores da mesma mutação genética indica que outros fatores -genéticos ou ambientais podem estar envolvidos no desenvolvimento dos sintomas. O conhecimento crescente sobre a disfunção celular em mutantes pode gerar insights sobre alvos terapêuticos mais eficazes.Palavras-chave: distonia; apoptose

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The Dystonias

Jinnah¹

2019

CONTINUUM: Lifelong Learning in Neurology

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PURPOSE OF REVIEW This article provides a summary of the state of the art in the diagnosis, classification, etiologies, and treatment of dystonia. RECENT FINDINGS Although many different clinical manifestations of dystonia have been recognized for decades, it is only in the past 5 years that a broadly accepted approach has emerged for classifying them into specific subgroups. The new classification system aids clinical recognition and diagnosis by focusing on key clinical features that help distinguish the many subtypes. In the past few years, major advances have been made in the discovery of new genes as well as advances in our understanding of the biological processes involved. These advances have led to major changes in strategies for diagnosis of the inherited dystonias. An emerging trend is to move away from heavy reliance on the phenotype to target diagnostic testing toward a broader approach that involves large gene panels or whole exome sequencing. SUMMARY The dystonias are a large family of phenotypically and etiologically diverse disorders. The diagnosis of these disorders depends on clinical recognition of characteristic clinical features. Symptomatic treatments are useful for all forms of dystonia and include oral medications, botulinum toxins, and surgical procedures. Determination of etiology is becoming increasingly important because the number of disorders is growing and more specific and sometimes disease-modifying therapies now exist.

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New algorithm for the diagnosis of hereditary dystonia

Cited by 4 publications

References 21 publications

Treatable inherited rare movement disorders

Treatable inherited rare movement disorders

Understanding dystonia: diagnostic issues and how to overcome them

The Dystonias

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