Is Benign Hereditary Chorea Really Benign? Brain‐Lung‐Thyroid Syndrome Caused by <i>NKX2‐1</i> Mutations

Parnes, Mered; Bashir, Hamid; Jankovic, Joseph

doi:10.1002/mdc3.12690

Cited by 23 publications

(16 citation statements)

References 39 publications

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“…The exacerbation of dyskinesia by stress, action, and excitement and the sleep‐related ballistic bouts observed in ADCY5 also distinguish these disorders. Finally, mutations in these genes result in different extraneural features—cardiomyopathy as a rare feature of ADCY5 and hypothyroidism, respiratory distress, and ligamentous laxity in NKX2‐1 patients …”

Section: Resultsmentioning

confidence: 99%

ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder

Vijiaratnam

Bhatia

Lang

et al. 2019

Movement Disord Clin Pract

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Background The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)‐related disease has expanded considerably since the first description of the disorder in 1978 as familial essential chorea in a multiplex family. Objective To examine recent advances in the understanding of ADCY5‐related dyskinesia and outline a diagnostic approach to enhance clinical detection. Methods A pragmatic review of the ADCY5 literature was undertaken to examine unique genetic and pathophysiological features as well as distinguishing clinical features. Results With over 70 cases reported to date, the phenotype is recognized to be broad, although distinctive features include prominent facial dyskinesia, motor exacerbations during drowsiness or sleep arousal, episodic painful dystonic posturing increased with stress or illness, and axial hypotonia with delayed developmental milestones. Uncommon phenotypes include childhood‐onset chorea, myoclonus‐dystonia, isolated nongeneralized dystonia, and alternating hemiplegia. Conclusion The ongoing expansion in clinical features suggests that ADCY5 remains underdiagnosed and may account for a proportion of “idiopathic” hyperkinetic movement disorders. Enhanced understanding of its clinical features may help clinicians improve the detection of complex or uncommon cases.

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Section: Resultsmentioning

confidence: 99%

ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder

Vijiaratnam

Bhatia

Lang

et al. 2019

Movement Disord Clin Pract

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“…It is argued that this is not necessarily a "benign" condition, as it is associated mainly with pulmonary and thyroid disorders in the most severe expression of the TITF1/NKX21related disorders. This triad is also called "brainlungthyroid disease" [45].…”

Section: Benign Hereditary Choreamentioning

confidence: 99%

Review of Hereditary and Acquired Rare Choreas

Martínez-Ramírez

Walker

Rodríguez-Violante

et al. 2020

Tremor and Other Hyperkinetic Movements

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The first step in diagnosis is recognizing the movement disorder as chorea [1]. Chorea is characterized by irregu lar, purposeless, arrhythmic, nonstereotyped involuntary movements that flow from one body part to another [2]. These movements can affect any part of the body, although usually brief, can also be of long duration, and can have small or large amplitude. Movements with large amplitude localized proximally in the arms are called "ballismus" [3]. Once the movement disorder has been recognized as chorea, we then recommend classifying the age of onset as either childhood (prior to the age of 16) or adultonset [1]. Multiple causes of chorea exist in both age groups, many of which fit in the definition of rare diseases [4]. Since the most common cause of acute chorea in childhood is Sydenham's chorea and of chronic progressive chorea in adults is Huntington's disease (HD), we recommend these disorders should be tested for, as appropriate, and excluded before proceeding to other diagnostic pathways. The next step is to determine, if possible, whether the chorea is hereditary (genetic) or acquired (nongen etic) in nature. The family history should be carefully and

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“…Inheritance is autosomal dominant; so, it is important to screen parents for the pathogenic mutation if identified in the child so that parents and other family members can also undergo any necessary screening. [53][54][55] Summary: Evaluate all children with new-onset chorea for evidence of Sydenham's chorea. Children with treatmentrefractory and severe chorea should be screened for GNAO1 mutations and considered for DBS.…”

Section: Chorea-predominant Movement Disordersmentioning

confidence: 99%

Treatable Movement Disorders of Infancy and Early Childhood

Aravamuthan

Pearson

2020

Semin Neurol

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Movement disorders in childhood can be difficult to diagnose early. Disease processes present variably and can mimic each other. It is particularly important to remain vigilant for the subset of these movement disorders that are treatable. These disorders can be managed with (1) treatments specific to the disease that substantially reduce symptoms; (2) treatments that can prevent progression; (3) treatments that can hasten recovery; or (4) surveillance and management of the associated, sometimes life-threatening, comorbidities. Here, we present a practical and phenomenology-oriented framework for diagnosing and managing these treatable movement disorders of infancy and early childhood.

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Is Benign Hereditary Chorea Really Benign? Brain‐Lung‐Thyroid Syndrome Caused by NKX2‐1 Mutations

Cited by 23 publications

References 39 publications

ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder

ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder

Review of Hereditary and Acquired Rare Choreas

Treatable Movement Disorders of Infancy and Early Childhood

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