A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas

Rodríguez-Quiroga, Sergio Alejandro; Zavala, Lucía; Maturo, Josefina Pérez; González‐Morón, Dolores; Garretto, Nélida; Kauffman, Marcelo

doi:10.1002/mdc3.12920

Cited by 2 publications

(1 citation statement)

References 9 publications

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“…Chorea is not an uncommon symtptom of inborn errors of metabolism ( Table 2), and is a predominant characteristic of glutaric aciduria type 1, gluc ose transporter type 1 (GLUT1) deficiency, and LeschNyhan disease. A recent report described that Niemann Pick type C in the adultonset can mimic HD phenocopies and should be considered in the diagnostic approach of patients with a choreic phenotype [68].…”

Section: Inborn Errors Of Metabolismmentioning

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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Section: Inborn Errors Of Metabolismmentioning

confidence: 99%